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List of works by Samuel Berkovic

'Idiopathic' no more! Abnormal interaction of large-scale brain networks in generalized epilepsy

scientific article published in September 2014

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

scientific article

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

scientific article published on 16 June 2014

A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding

scientific article published on 27 July 2006

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

article

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

scientific article published on 01 December 2018

A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.

scientific article published on 5 July 2012

A case series of lacosamide as adjunctive therapy in refractory sleep-related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy).

scientific article published on 25 February 2018

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

scientific article published on 29 November 2017

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

scientific article published on 13 March 2007

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

scientific article published in August 2000

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

scientific article published on 24 September 2010

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

scientific article

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure ⬇️

scientific article published in October 2022

A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy

scientific journal article

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

scientific article

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

scientific article

A neurologist's guide to genome-wide association studies.

scientific article published on February 2009

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

scientific article published on 05 January 2005

A new home for the Genetic Literacy series

scientific article published on 01 December 2018

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

scientific article published on 01 September 2006

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

scientific article published on 07 September 2015

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

scientific article

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

scientific article

A retrospective population-based study on seizures related to childhood vaccination

scientific article published on 21 June 2011

A targeted resequencing gene panel for focal epilepsy.

scientific article published on 30 March 2016

A twin study of genetic influences on epilepsy outcome

scientific article published on April 2003

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation

scientific journal article

AUStralian study of titration to effect profile of safety (AUS-STEPS): high-dose gabapentin (neurontin) in partial seizures

scientific article

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

scientific article published on 01 December 2018

Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects.

scientific article published on February 2013

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

scientific article published on 23 June 2010

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

scientific article

Acetylation of histones in isolated avian erythroid nuclei ⬇️

scientific article published on March 2, 1977

Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults.

scientific article published in October 2006

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder

scientific article published on 13 September 2004

Action to improve awareness, participation, care and support for people with epilepsy ⬇️

scientific article published on 01 January 2011

Adjunctive therapy of uncontrolled partial seizures with levetiracetam in Australian patients

article

Aggravation of Generalized Epilepsies ⬇️

scientific article published on January 1, 1998

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration.

scientific article published in March 2006

Anterior temporal encephaloceles: Elusive, important, and rewarding to treat

scientific article published on 23 October 2020

Antiepileptic drug teratogenicity and de novo genetic variation load

scientific article published on 25 March 2020

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

scientific article published on 08 September 2020

Are epilepsy classifications based on epileptic syndromes and seizure types outdated?

scientific article published on 01 June 2006

Are myotonia and epilepsy linked by a chloride channel? ⬇️

scientific article published on February 13, 2013

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

scientific article

Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

scientific article published on 21 May 2021

Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy

scientific article published on 3 August 2005

Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release

scientific article

Association studies and functional validation or functional validation alone?

scientific article published on 11 April 2007

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

scientific article published on 25 October 2013

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

scientific article

Autosomal dominant nocturnal frontal lobe epilepsy

article by Ingrid Scheffer et al published February 1995 in Brain

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

scientific article

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

scientific article published on 01 October 1995

Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.

scientific article published in April 2013

Autosomal recessive form of periventricular heterotopia

scientific article published on April 2003

Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus

scientific article

Axon initial segment dysfunction in epilepsy

scientific article published on 07 April 2010

Balance impairment in chronic antiepileptic drug users: a twin and sibling study

scientific article published on 8 August 2009

Benign Partial Seizures of Adolescence

scientific article published on 01 September 1999

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

scientific article

Benign mesial temporal lobe epilepsy

scientific article published on 25 January 2011

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

scientific article published on 23 March 2012

Benign occipital epilepsies of childhood: clinical features and genetics

scientific article published on 9 July 2008

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

scientific article published on 24 January 2013

Brivaracetam as adjunctive treatment for uncontrolled partial epilepsy in adults: a phase III randomized, double-blind, placebo-controlled trial

scientific article published on 8 November 2013

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

scientific article

CHD2 variants are a risk factor for photosensitivity in epilepsy

scientific article published on 17 March 2015

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

scientific article

Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy?

scientific article published in October 2010

Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies?

article

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

scientific article

Causes of epilepsies: Insights from discordant monozygous twins

scientific article published on 01 January 2001

Ceftazidime encephalopathy: absence status and toxic hallucinations ⬇️

scientific article (publication date: April 1992)

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

scientific article published on 21 January 2021

Changes in cortical excitability differentiate generalized and focal epilepsy

scientific article published in April 2007

Channelopathies as a genetic cause of epilepsy

scientific article (publication date: April 2003)

Channelopathies in idiopathic epilepsy

scientific article published on April 2007

Chapter 42 The idiopathic generalized epilepsies across life

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

scientific article

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

scientific article (publication date: 2003)

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

scientific article

Chronic encephalitis (Rasmussen's syndrome) and ipsilateral uveitis

scientific article published on December 1, 1992

Chronic encephalitis and epilepsy in adults and adolescents: a variant of Rasmussen's syndrome?

scientific article published in February 1997

Clinical and genetic analysis of a family with two rare reflex epilepsies

scientific article published on 06 April 2015

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

scientific article

Clinical and molecular genetics of myoclonic–astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome) ⬇️

scientific article published on November 1, 2001

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

scientific article published on 2 November 2011

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

scientific article published on 21 November 2018

Clinical features of seizures associated with parahippocampal/inferior temporal lesions compared to those with hippocampal sclerosis

scientific article published in September 2010

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

scientific article published on 05 January 2012

Clinical genetic study of the epilepsy-aphasia spectrum

scientific article

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

scientific article published in September 2010

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

scientific article published in The Lancet

Cognitive complaints after a first seizure in adulthood: Influence of psychological adjustment

scientific article published on 17 November 2008

Comment

scientific article published on 01 October 2006

Comparison of ictal SPECT and interictal PET in the presurgical evaluation of temporal lobe epilepsy

scientific article published in June 1995

Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy

scientific article

Consistency of Long-Term Subdural Electrocorticography in Humans

scientific article

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

scientific article published on 25 September 2013

Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies

scientific article published on January 2010

Cortical excitability and refractory epilepsy: a three-year longitudinal transcranial magnetic stimulation study

scientific article published on 3 December 2012

Cortical microarchitecture changes in genetic epilepsy.

scientific article

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

scientific article published on 08 July 2009

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

scientific article published on 13 January 2017

De novo mutations in epileptic encephalopathies

scientific article

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

scientific article

Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes

scientific article published on 04 July 2019

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

scientific article

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

scientific article published on 17 May 2013

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

scientific article published on 3 August 2007

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

scientific article published on 19 July 2010

Development of a rapid functional assay that predicts GLUT1 disease severity

scientific article published in December 2018

Developmental impact of a familial GABAA receptor epilepsy mutation

scientific article published on September 2008

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

scientific article published on 13 July 2016

Direct and indirect measures of verbal relational memory following anterior temporal lobectomy

scientific article published on January 2002

Distinguishing sleep disorders from seizures: diagnosing bumps in the night

scientific article

Do mutations in SCN1B cause Dravet syndrome?

scientific article

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

scientific article published on 9 March 2009

Does cardiac conduction pathology contribute to sudden unexpected death in epilepsy?

scientific article published in June 2000

Does variation in NIPA2 contribute to genetic generalized epilepsy?

scientific article published on 10 January 2014

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

scientific article published on 12 October 2016

Double-Blind, Placebo-Controlled, Lamotrigine in Treatment-Resistant Generalised Epilepsy

scientific article published on 01 December 1998

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

scientific article

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of epilepsy

article published in the Proceedings of the National Academy of Sciences of the United States of America

Dystonia, clinical lateralization, and regional blood flow changes in temporal lobe seizures ⬇️

scientific article published on February 1, 1992

EEG in adult-onset idiopathic generalized epilepsy

scientific article

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

scientific article published on 23 October 2019

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

article

Early seizures after temporal lobectomy predict subsequent seizure recurrence

scientific article published in February 2005

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

scientific article published in September 2009

Effect of antiepileptic medication on bone mineral measures.

scientific article published in November 2005

Effects of angiotensin II on dopamine and serotonin turnover in the striatum of conscious rats

scientific article published in June 1993

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

article

Efficacy and safety of levetiracetam 1000-3000 mg/day in patients with refractory partial-onset seizures: a multicenter, open-label single-arm study

scientific article

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

scientific article published on 26 June 2015

Electroencephalographic characterisation of pentylenetetrazole-induced seizures in mice lacking the alpha 4 subunit of the neuronal nicotinic receptor

scientific article published in February 2003

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations

scientific article published on 01 July 2019

Enlarged hippocampal fissure in psychosis of epilepsy

scientific article published on 24 July 2020

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

scientific article published on 22 July 2019

Epilepsies in twins: genetics of the major epilepsy syndromes

scientific article published in April 1998

Epilepsies with single gene inheritance.

scientific article published on January 1997

Epilepsy Genes and the Genetics of Epilepsy Syndromes: The Promise of New Therapies Based on Genetic Knowledge ⬇️

scientific article published on January 1, 1997

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

scientific article

Epilepsy and mental retardation limited to females: an under-recognized disorder

scientific article (publication date: 26 February 2008)

Epilepsy genetics: clinical impacts and biological insights

scientific article published on 04 September 2019

Epilepsy in Offspring of Whom Both Parents Have Idiopathic Generalized Epilepsy: Biparental Inheritance

scientific article published on 01 September 2003

Epilepsy in families: Age at onset is a familial trait, independent of syndrome

scientific article published on 20 May 2019

Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy

scientific article published on 29 November 2020

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

Epilepsy: insights into causes and treatment dilemmas

scientific article published in January 2010

Epileptic spasms are a feature of DEPDC5 mTORopathy.

scientific article published on 23 July 2015

Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients

scientific article published in September 1998

Etiology of hippocampal sclerosis: evidence for a predisposing familial morphologic anomaly

scientific article published on 07 June 2013

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

scientific article published on 10 April 2017

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

scientific article

Evaluation of non-coding variation in GLUT1 deficiency

scientific article published on 6 June 2016

Evidence for genetic factors in vasovagal syncope: a twin-family study

scientific article published in August 2012

Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approach

scientific article published on 05 June 2019

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

scientific article published on 04 July 2018

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

scientific article

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

scientific article published on 23 March 2017

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

scientific article published on 24 December 2015

Exploration of the genetic architecture of idiopathic generalized epilepsies

scientific article published in October 2006

Expression of the Transmembrane Lysosomal Protein SCARB2/Limp-2 in Renin Secretory Granules Controls Renin Release

scientific article published on 01 January 2012

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

scientific article

Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria

scientific article published on 01 September 2010

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

article

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

scientific article published on 16 March 2020

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus

scientific article

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

scientific article

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

scientific article published on 12 March 2015

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

scientific article published on 8 June 2017

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum

scientific article

Familial mesial temporal lobe epilepsy and the borderland of déjà vu.

scientific article

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

scientific article published on 23 September 2010

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

scientific article published on 15 May 2015

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

article

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

scientific article published on 3 March 2012

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

scientific article published in August 1998

Febrile seizures and hippocampal sclerosis: frequent and related findings in intractable temporal lobe epilepsy of childhood.

scientific article published on April 1995

Febrile seizures: genetics and relationship to other epilepsy syndromes ⬇️

scientific article published on April 1, 1998

Febrile seizures: traffic slows in the heat

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum

scientific article published on 18 January 2017

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

scientific article published on 30 May 2022

Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

scientific article published on January 1991

Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions

scientific article published on 01 March 1991

GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons

scientific article published on 23 January 2020

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

scientific article

GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children

scientific article

GENETICS. The Human Variome Project

scientific article

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

Gain-of-function HCN2 variants in genetic epilepsy.

scientific article published on 24 October 2017

Gene expression analysis in absence epilepsy using a monozygotic twin design

scientific article

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

scientific article

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

scientific article (publication date: March 1997)

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

scientific article published on 01 January 1999

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors

scientific article published on 23 October 2020

Genetic Epilepsies

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.

scientific article published in August 2014

Genetic and neuroradiological heterogeneity of double cortex syndrome

scientific article published in February 2000

Genetic and neuroradiological heterogeneity of double cortex syndrome

article

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

scientific article published in May 2004

Genetic association studies in epilepsy: "the truth is out there".

scientific article published in November 2004

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

scientific article published on 25 August 2017

Genetic factors and shared environment contribute equally to objective singing ability

scientific article published on 06 May 2022

Genetic generalized epilepsies

scientific article published on 09 May 2018

Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus

article

Genetic literacy series: genetic epilepsy with febrile seizures plus

scientific article published on 01 August 2018

Genetic variation of CACNA1H in idiopathic generalized epilepsy

scientific article

Genetics of epilepsy syndromes in families with photosensitivity

scientific article published on 13 March 2013

Genetics of epilepsy: The testimony of twins in the molecular era

scientific article

Genetics of febrile seizure subtypes and syndromes: a twin study

scientific article published on 21 March 2013

Genetics of temporal lobe epilepsy

article

Genetics of the epilepsies

article

Genetics of the epilepsies.

scientific article

Genetics of vasovagal syncope

scientific article published on 12 April 2014

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Glioneuronal tumours in neurofibromatosis type 1: MRI-pathological study

scientific article published on 01 September 2004

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

scientific article published on 09 May 2011

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

article

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

scientific journal article

Growing pains: twin family study evidence for genetic susceptibility and a genetic relationship with restless legs syndrome

scientific article

HLA-DR2 negative narcolepsy in Australian Caucasians: clinical features, serology and sequence specific oligonucleotide typing.

scientific article published in November 1992

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes

scientific article

Hepatotoxicity of sodium valproate

scientific article published on 01 January 1983

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Hippocampal atrophy is not a major determinant of regional hypometabolism in temporal lobe epilepsy.

scientific article published on January 1997

Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI-negative temporal lobe epilepsy

scientific article published on 26 August 2016

Hippocampal pathology in refractory temporal lobe epilepsy: T2-weighted signal change reflects dentate gliosis

scientific article published on 01 January 2002

Hippocampal sclerosis studied in identical twins ⬇️

scientific article published on July 1, 1998

Hippocampal sclerosis: MR prediction of seizure intractability

scientific article published in February 2007

How mutations in the nAChRs can cause ADNFLE epilepsy

scientific article (publication date: 2002)

Human GABRG2 generalized epilepsy: Increased somatosensory and striatothalamic connectivity

scientific article published on 07 June 2019

Human epilepsies: interaction of genetic and acquired factors

scientific article

Human focal seizures are characterized by populations of fixed duration and interval

scientific article published on 31 December 2015

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore

scientific article

Hypothalamic hamartoma and epilepsy: the pathway of discovery

scientific article published on 01 December 2003

Hypothalamic hamartoma and seizures: a treatable epileptic encephalopathy

scientific article published in July 2003

Hypothalamic hamartomas and ictal laughter: Evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging ⬇️

scientific article published on May 1, 1988

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

article

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

article

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

scientific article

ILAE-Klassifikation der Epilepsien: Positionspapier der ILAE-Kommission für Klassifikation und Terminologie

article

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

scientific article published on 22 December 2023

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016

Idiopathic Generalized Epilepsies: Do Sporadic and Familial Cases Differ?

scientific article published on 01 November 2001

Idiopathic recurrent stupor: a warning.

scientific article

Impaired verbal associative learning after resection of left perirhinal cortex

scientific article

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

scientific article

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission

scientific article

Increased serotonin receptor availability in human sleep: evidence from an [18F]MPPF PET study in narcolepsy

scientific article published on 4 November 2005

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

scientific article published on 12 March 2020

Inter-session repeatability of cortical excitability measurements in patients with epilepsy

scientific article published on 21 October 2011

Interictal Discourse Production in Temporal Lobe Epilepsy

article

Interictal spikes and epileptic seizures: their relationship and underlying rhythmicity

scientific article

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

scientific article published on 01 April 2019

Intracortical hyperexcitability in humans with a GABAA receptor mutation

scientific article

Intractable partial epilepsy following low-dose scalp irradiation in infancy

scientific article published on 01 December 1995

Intraoperative monitoring to preserve central visual fields during occipital corticectomy for epilepsy

scientific article published on 01 May 2000

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes

article

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

scientific article published in January 2018

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

scientific article

Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

scientific article published on 23 March 2017

Is benign rolandic epilepsy genetically determined?

article

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

scientific article published on 6 February 2014

Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?

scientific article published on 23 May 2007

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

scientific article published in May 2005

Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?

scientific article published on 16 June 2004

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood

scientific article published on 19 January 2018

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

scientific article

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

scientific article

Key epilepsy gene gets further phenotypic delineation

article

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

scientific article published on 01 January 2019

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

scientific article

Lack of replication of association between scn1a SNP and febrile seizures.

scientific article

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

scientific article published in April 1997

Locus for febrile seizures

scientific article published on 01 June 2000

Long-term follow-up of febrile infection-related epilepsy syndrome.

scientific article

Long-term seizure outcome and risk factors for recurrence after extratemporal epilepsy surgery

scientific article published on 14 March 2012

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

scientific journal article

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

scientific article published in 2022

Low blood glucose precipitates spike-and-wave activity in genetically predisposed animals

scientific article

Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease

scientific article

MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases.

scientific article published in March 2004

Magnetic resonance imaging in temporal lobe epilepsy: pathological correlations

scientific article

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.

scientific article

Mechanisms of human inherited epilepsies

scientific article

Metabolic patterns and seizure outcomes following anterior temporal lobectomy

scientific article published on 17 January 2019

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

scientific article published on 30 September 2010

Mind the gap: Multiple events and lengthy delays before presentation with a "first seizure".

scientific article published on 31 August 2015

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

article

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

scientific article published on 23 October 2010

Mortality in patients with psychogenic nonepileptic seizures

scientific article published on 20 July 2020

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

scientific article published in November 2007

Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: data from international pharmacogenetic cohorts

scientific article

Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia

scientific article published in December 2008

Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat.

scientific article published on 20 March 2013

Multiple molecular mechanisms for a single GABAA mutation in epilepsy

scientific article published on 13 February 2013

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

scientific article published on 22 January 2016

Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability

scientific article published on 27 April 2005

Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy

scientific article published on 01 June 2011

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

scientific article published on 7 May 2015

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

scientific journal article

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

scientific article

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

scientific article

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

scientific article published on 14 April 2014

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

scientific article

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

scientific article published on 27 October 2015

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

scientific article published on 08 April 2013

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

scientific article

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

scientific article published on 20 July 2016

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

scientific article published on 05 May 2015

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

scientific article published on 5 April 2017

Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies

scientific article published in October 1989

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity

scientific article

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

NREM arousal parasomnias and their distinction from nocturnal frontal lobe epilepsy: a video EEG analysis.

scientific article published on December 2009

Navigating the channels and beyond: unravelling the genetics of the epilepsies

scientific article published on March 2008

Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).

scientific article

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

scientific article published on 27 October 2009

Networks underlying paroxysmal fast activity and slow spike and wave in Lennox-Gastaut syndrome

scientific article

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

scientific article

Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy

scientific article published on 26 February 2010

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

scientific article published on 09 October 2013

New therapeutic opportunities in epilepsy: a genetic perspective

scientific article published on 10 August 2010

New-onset temporal lobe epilepsy in children: lesion on MRI predicts poor seizure outcome

scientific article

Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation

scientific article published in September 2007

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

scientific article published on 04 February 2019

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

scientific article published on 31 August 2020

Obstetric Events as a Risk Factor for Febrile Seizures: A Community-Based Twin Study

article by Ingo Helbig et al published December 2008 in Twin Research and Human Genetics

Occipital epilepsies: identification of specific and newly recognized syndromes

scientific article

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

scientific article published on September 2017

Overcoming barriers to successful epilepsy management

scientific article

P3 latency jitter assessed using 2 techniques. II. Surface and sphenoidal recordings in subjects with focal epilepsy

scientific article published in November 1994

POSTICTAL SPET IN EPILEPSY

scientific article published in The Lancet

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

scientific article

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

scientific article published on January 2012

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

scientific article

Parahippocampal epilepsy with subtle dysplasia: A cause of "imaging negative" partial epilepsy

scientific article published on 12 May 2009

Parental Mosaicism in "De Novo" Epileptic Encephalopathies

scientific article

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

scientific article

Paroxysmal motor disorders of sleep: the clinical spectrum and differentiation from epilepsy

scientific article published on November 2006

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

scientific article published on 10 February 2020

Perfusion patterns during temporal lobe seizures: relationship to surgical outcome.

scientific article published in November 1997

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

scientific article

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

article

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography

scientific article published on 29 June 2016

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection

scientific article published in May 1997

Personality development in the context of intractable epilepsy.

scientific article published in January 2009

Phenotype-genotype complexities: opening DOORS.

scientific article published on 29 November 2013

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy

scientific article

Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy

scientific article published on 11 July 2007

Plasmapheresis in Rasmussen's encephalitis. 1996 ⬇️

scientific article published on December 1, 2001

Poppy tea and the baker's first seizure

scientific article published on 01 September 1997

Postictal switch in blood flow distribution and temporal lobe seizures.

scientific article

Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine

scientific article

Predicting seizure control: cortical excitability and antiepileptic medication

scientific article

Prediction by modeling that epilepsy may be caused by very small functional changes in ion channels

scientific article published on October 2009

Prediction of drug resistance in epilepsy: not as easy as ABC

scientific article published on 01 August 2006

Prediction of seizure likelihood with a long-term, implanted seizure advisory system in patients with drug-resistant epilepsy: a first-in-man study

scientific article published on 2 May 2013

Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group

scientific article published on 16 June 2019

Proconvulsant-induced seizures in alpha(4) nicotinic acetylcholine receptor subunit knockout mice

scientific article

Profiles of psychosocial outcome after epilepsy surgery: the role of personality.

scientific article published on 3 November 2009

Progressive gait deterioration in adolescents with Dravet syndrome

scientific article published in July 2012

Progressive myoclonus epilepsy associated with SACS gene mutations

scientific article published on 23 June 2016

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

scientific article published on 21 October 2020

Progressive myoclonus epilepsy in young adults with neuropathologic features of Alzheimer's disease

scientific article

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

scientific article

Psychological trajectories in the year after a newly diagnosed seizure.

scientific article published on 11 September 2012

Quinidine in the treatment of KCNT1-positive epilepsies

scientific article published on 15 September 2015

Rare copy number variants are an important cause of epileptic encephalopathies

scientific article published on December 2011

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam

article

Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?

scientific article

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

scientific article published on 7 February 2017

Recent advances in the molecular genetics of epilepsy.

scientific article published on 06 March 2013

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

article

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

scientific article

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

scientific article

Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome

scientific article published on 17 April 2014

Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy

scientific article published on 6 August 2008

Reduced variance in monozygous twins for multiple MR parameters: implications for disease studies and the genetic basis of brain structure

scientific article published on 9 September 2009

Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines.

scientific article published on 12 December 2006

Reply

Reply: Transcranial magnetic stimulation as a biomarker for epilepsy.

scientific article

Response to Tinuper et al

article published in 2007

Revidierte Terminologie und Konzepte zur Einteilung von epileptischen Anfällen und Epilepsien: Bericht der Klassifikations- und Terminologiekommission der Internationalen Liga gegen Epilepsie, 2005–2009

article

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

scientific article

Rey figure distortions reflect nonverbal recall differences between right and left foci in unilateral temporal lobe epilepsy

scientific article published in October 1994

Risk factors for sudden unexpected death in epilepsy: a controlled prospective study based on coroners cases

scientific article published in October 2003

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

scientific article published on 29 July 2013

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

scientific article

SCN1A Variants in vaccine-related febrile seizures: A prospective study

scientific article published on 12 December 2019

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

scientific article published on 4 February 2017

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

scientific article published on 12 March 2009

SCN1A mutations and epilepsy

scientific article

SCN1A testing for epilepsy: application in clinical practice.

scientific article published on 15 April 2013

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

article

SRPX2 mutations in disorders of language cortex and cognition

scientific article

Sandifer syndrome misdiagnosed as refractory partial seizures in an adult

scientific article published on 01 March 2004

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

scientific article published on 17 June 2019

Seizure Outcome after Temporal Lobectomy: Current Research Practice and Findings ⬇️

scientific article published on October 1, 2001

Seizure outcome and pathological findings following temporal lobectomy in patients with complex partial seizures and foreign tissue lesions seen only on MRI

scientific article published on 01 January 1994

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

scientific article

Seizure-associated hippocampal volume loss: A longitudinal magnetic resonance study of temporal lobe epilepsy

scientific article published on 01 May 2002

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

scientific article published on 27 January 2016

Seizures in family members of patients with hippocampal sclerosis ⬇️

scientific article published on November 27, 2001

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

scientific article published on 20 December 2017

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

scientific article

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

scientific article (publication date: July 2001)

Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI.

scientific article

Significance of post-operative auras after temporal lobectomy: a surprising methodological trap

scientific article published on 29 February 2012

Sleep deprivation increases cortical excitability in epilepsy: syndrome-specific effects

scientific article published in September 2006

Small temporal pole encephaloceles: a treatable cause of "lesion negative" temporal lobe epilepsy

scientific article

Sodium channels and the neurobiology of epilepsy

scientific article published on 20 August 2012

Sodium-channel defects in benign familial neonatal-infantile seizures

scientific article (publication date: 14 September 2002)

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

scientific article

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

scientific article published on 02 July 2019

Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.

scientific article published on 5 December 2007

Somatic mutations in cerebral cortical malformations

scientific article

Spatiotemporal alterations of central α1-adrenergic receptor binding sites following amygdaloid kindling seizures in the rat: autoradiographic studies using [3H]prazosin

scientific article published on 01 February 1995

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy

scientific article published on 30 May 2019

State transitions through inhibitory interneurons in a cortical network model

scientific article published on 15 October 2021

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

scientific article

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females

scientific article (publication date: November 2002)

Subtle microscopic abnormalities in hippocampal sclerosis do not predict clinical features of temporal lobe epilepsy

scientific article published in August 2004

Sudden unexpected death in epilepsy in Victoria

scientific article published in January 2000

Surgical outcome in patients with epilepsy and dual pathology

scientific article published in May 1999

Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results

scientific article

Surgical treatment of temporal lobe epilepsy

scientific article published in November 2002

Susceptibility genes for complex epilepsy

scientific article

Synaptic Zn2+ and febrile seizure susceptibility

scientific article

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

scientific article

TEMPORAL LOBE EPILEPSY IN HYPOSEXUAL MEN

scientific article published in The Lancet

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

scientific article

Temporal lobe dysembryoplastic neuroepithelial tumour: significance of discordant interictal spikes

scientific article published on 01 June 2004

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

scientific article published on 4 October 2006

Temporal lobe epilepsy in childhood: Clinical, EEG, and neuroimaging findings and syndrome classification in a cohort with new-onset seizures ⬇️

scientific article published on October 1, 1997

Temporal lobectomy for epilepsy - complicationsin 200 patients

scientific article published in July 1995

Temporal lobectomy: long-term seizure outcome, late recurrence and risks for seizure recurrence

scientific article published on 23 June 2004

The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

scientific article published on 18 November 2019

The Epilepsy Genetic Association Database (epiGAD): analysis of 165 genetic association studies, 1996-2008.

scientific article

The Ramsay Hunt syndrome is no longer a useful diagnostic category

scientific article

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

scientific article

The borderland of epilepsy: a clinical and molecular view, 100 years on.

scientific article published in February 2010

The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures

scientific article published in April 2009

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

scientific article published on 03 December 2020

The core network in absence epilepsy. Differences in cortical and thalamic BOLD response.

scientific article published on 11 August 2010

The dynamics of the epileptic brain reveal long-memory processes

scientific article published on 24 October 2014

The epilepsy phenome/genome project.

scientific article published on July 2013

The frontal lobe in absence epilepsy: EEG-fMRI findings

scientific article published on 28 March 2012

The genetic basis of music ability

scientific article

The genetics of human epilepsy

scientific article

The hidden genetics of epilepsy-a clinically important new paradigm

scientific article

The hippocampal sclerosis whodunit: Enter the genes

article

The idiopathic generalized epilepsies across life

scientific article

The influence of changes in the intensity of magnetic stimulation on coil output

scientific article published on 01 December 1993

The management of epilepsy in pregnancy.

scientific article published on May 2009

The peri-ictal state: cortical excitability changes within 24 h of a seizure

scientific article published on 27 February 2009

The psychological impact of a newly diagnosed seizure: losing and restoring perceived control.

scientific article

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies

scientific article

The spectrum of SCN1A-related infantile epileptic encephalopathies

scientific article published in March 2007

Timing of de novo mutagenesis--a twin study of sodium-channel mutations

scientific article published in September 2010

Tramadol and new-onset seizures.

scientific article published in January 2005

Transcallosal resection of hypothalamic hamartomas in patients with intractable epilepsy.

scientific article published in December 2003

Transcriptome analysis of a ring chromosome 20 patient cohort

scientific article published on 18 November 2020

Treatment of an unprovoked tonic-clonic seizure

Treatment of new-onset epilepsy: seizures beget discussion

scientific article published in The Lancet

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

scientific article

Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2

scientific article

Twins with different temporal lobe malformations: schizencephaly and arachnoid cyst.

scientific article published in December 1998

Update on pharmacogenetics in epilepsy: a brief review.

scientific article

Vaccination and Dravet syndrome – Authors' reply

Vaccination, seizures and 'vaccine damage'.

scientific article published on April 2007

Validation of a questionnaire for clinical seizure diagnosis

scientific article published in November 1992

Verbal memory in left temporal lobe epilepsy: evidence for task-related localization

scientific article published in April 2002

Weight and fat distribution in patients taking valproate: a valproate-discordant gender-matched twin and sibling pair study.

scientific article published on 14 August 2014

What happens now? Ongoing outcome after post-temporal lobectomy seizure recurrence

scientific article published in November 2006

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis

scientific article

Why do seizures in generalized epilepsy often occur in the morning?

scientific article published in July 2009

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

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