List of works by Ingrid Scheffer

"It's good to know": experiences of gene identification and result disclosure in familial epilepsies

scientific article published on 16 February 2015

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

scientific article published on 16 June 2014

2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction

scientific article published on 10 May 2019

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

scientific article published on 20 September 2009

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 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 definition and classification of status epilepticus--Report of the ILAE Task Force on Classification of Status Epilepticus.

scientific article published on 04 September 2015

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

scientific article published on 24 September 2010

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

scientific journal article

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

scientific article

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

scientific article published on 28 December 2015

A new classification and class 1 evidence transform clinical practice in epilepsy.

scientific article published on 16 December 2017

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

scientific article published on 01 September 2006

A novel GEFS+ locus on 12p13.33 in a large Roma family

scientific article published on 13 September 2011

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

scientific article published on 11 May 2018

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 set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

scientific article published on 20 February 2018

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

scientific article published on 04 May 2020

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

scientific article published on 11 June 2018

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

ADGRV1 is implicated in myoclonic epilepsy

scientific article published on 20 December 2017

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

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

scientific article published on 01 December 2018

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

scientific article published in January 2018

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

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

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

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

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 01 February 2020

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

Autoantibodies and epilepsy

scientific article published on May 2011

Automatisms in absence seizures in children with idiopathic generalized epilepsy

scientific article published in June 2009

Autosomal dominant nocturnal frontal lobe epilepsy

article by Ingrid Scheffer et al published February 1995 in Brain

Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation

scientific article published on 01 October 1997

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

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

scientific article published on 23 December 2019

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

scientific article

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

Beyond the single nucleotide variant in epilepsy genetics

article

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification

scientific article published on 19 March 2020

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

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

scientific article published on 24 January 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

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

scientific article published on 10 September 2020

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

scientific article published on 21 January 2021

Channelopathies as a genetic cause of epilepsy

scientific article (publication date: April 2003)

Channelopathies in idiopathic epilepsy

scientific article published on April 2007

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)

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

scientific article published on 20 January 2018

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

scientific article

Classification and clinical features of absence epilepsies: how evidence leads to changing concepts

scientific article published on 01 December 2008

Classification as autonomic versus sensory seizures

scientific article published on 29 July 2019

Classification of the epilepsies: New concepts for discussion and debate-Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology.

scientific article

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 characterization of KCNT1-related severe early-onset epilepsy

scientific article published in December 2017

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 profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

scientific article

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

scientific article published in September 2010

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

scientific article published on 25 January 2014

Cognitive processes predicting advanced theory of mind in the broader autism phenotype

scientific article published on 30 September 2019

Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome

scientific article published on 25 August 2020

Comment

scientific article published on 01 October 2006

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

Corrigendum to “Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome” [Epilepsy Res. 140 (2018) 166–170]

scientific article published on 10 August 2018

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders

scientific article published in April 2010

DEPDC5 as a potential therapeutic target for epilepsy

scientific article published on 13 April 2017

DNM1 encephalopathy: A new disease of vesicle fission

scientific article

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

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 ATP1A3 cause alternating hemiplegia of childhood

scientific article

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 concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy"

scientific article published on 31 December 2019

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

scientific article published on 09 July 2020

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

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 and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Diagnosis and long-term course of Dravet syndrome

scientific article published on 16 June 2012

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

scientific article

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

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 genotype determine phenotype?: Sodium channel mutations in Dravet syndrome and GEFS+

scientific article published on 19 January 2011

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

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

scientific article published on 18 March 2014

Dorsal language stream anomalies in an inherited speech disorder

scientific article published on 01 April 2019

Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial

scientific article published on 02 March 2020

Double somatic mosaicism in a child with Dravet syndrome

scientific article published on 19 April 2019

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

scientific article

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

scientific article

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

scientific article published on 08 February 2009

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

Dysarthria and broader motor speech deficits in Dravet syndrome.

scientific article

EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state

scientific article published on 23 February 2009

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 and effective treatment of KCNQ2 encephalopathy.

scientific article

Early mortality in SCN8A-related epilepsies.

scientific article published on 13 April 2018

Early neuroimaging markers of FOXP2 intragenic deletion

scientific article

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

article

Early seizures: causal events or predisposition to adult epilepsy?

scientific article published on July 2007

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

scientific article published in September 2009

Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?

scientific article

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

article

Efficacy and tolerability of adjunctive lacosamide in pediatric patients with focal seizures

scientific article published on 28 August 2019

Efficacy of cannabinoids in paediatric epilepsy

Efficacy of the ketogenic diet: Which epilepsies respond?

scientific article published on 06 February 2012

Electroclinical features of absence seizures in childhood absence epilepsy

scientific article published on 01 August 2006

Electroclinical features of absence seizures in sleep

scientific article published on 20 January 2011

Electroencephalographic abnormalities during sleep in children with developmental speech-language disorders: a case-control study

scientific article published on 29 January 2009

Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype

scientific article published on 01 November 2018

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

scientific article published on 22 July 2019

Epidemiology of Treated Epilepsy in New Zealand Children

scientific article published on 9 November 2021

Epilepsy

scientific article published on 03 May 2018

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 classification: a cycle of evolution and revolution

scientific article

Epilepsy genetics revolutionizes clinical practice

scientific article published on 10 March 2014

Epilepsy in 2012: Advances in epilepsy shed light on key questions

scientific article published on 08 January 2013

Epilepsy in KCNH1-related syndromes

scientific article

Epilepsy syndromes in children

scientific article

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

scientific article published on 14 May 2015

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

scientific article published on 06 September 2013

Epilepsy: A classification for all seasons?

scientific article published on 01 July 2012

Epileptic spasms are a feature of DEPDC5 mTORopathy.

scientific article published on 23 July 2015

Epileptiform EEG abnormalities in children with language regression

scientific article published on 01 October 2006

Erratum to: New Genes for Focal Epilepsies with Speech and Language Disorders

article

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

scientific article

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

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

scientific article published on 24 December 2015

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

scientific article

Exploration of the genetic architecture of idiopathic generalized epilepsies.

scientific article published in October 2006

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

scientific article

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

scientific article published on 06 December 2020

FOXP2-Related Speech and Language Disorders

scientific article

Factors influencing clinical features of absence seizures.

scientific article published on 26 June 2008

Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy

scientific article published on 01 September 2004

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

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

scientific article published on 01 December 1998

Family studies of individuals with eyelid myoclonia with absences

scientific article published on December 2012

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases

scientific article

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

scientific article published on 21 August 2015

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor

scientific article published on 23 April 2015

Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder

scientific article published on 16 January 2017

Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit

scientific article published in May 2004

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

scientific article published on 3 March 2012

Febrile seizures

scientific article published on 01 December 2005

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.

scientific article

Fenfluramine HCl (Fintepla® ) provides long-term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open-label extension study

scientific article published on 19 October 2020

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?

scientific article published on 15 June 2020

Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS).

scientific article published on 6 February 2010

Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption

scientific article published on 22 August 2019

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

scientific article published on 18 January 2017

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

GLUT1 deficiency: A glut of epilepsy phenotypes

scientific article published on 25 January 2012

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

GRIN2A-Related Speech Disorders and Epilepsy

scientific article

GRIN2A: an aptly named gene for speech dysfunction

scientific article

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

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. 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

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

scientific article published on 01 August 2019

Genetic Contributions to Acquired Epilepsies

scientific article published on 29 September 2020

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

article

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

scientific article published in May 2004

Genetic dissection of the common epilepsies

scientific article

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

scientific article published on 25 August 2017

Genetic literacy series: genetic epilepsy with febrile seizures plus

scientific article published on 01 August 2018

Genetic testing in epilepsy: what should you be doing?

scientific article

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

scientific article

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 epilepsy: epilepsy research foundation workshop report

scientific article published in June 2007

Genetics of febrile seizure subtypes and syndromes: a twin study

scientific article published on 21 March 2013

Genetics of idiopathic epilepsies

scientific article published on 01 January 2013

Genetics of the epilepsies

article

Genetics of the epilepsies

scientific article published on 01 January 2001

Genetics of the epilepsies: Channelopathies and beyond

article

Genetics of the epilepsies: genetic twists in the channels and other tales.

scientific article published in February 2010

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 association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy

scientific article published on 16 July 2018

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

article

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

scientific article published on 14 October 2020

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

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

scientific article published on 13 August 2020

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

scientific article

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes

scientific article

Head stereotypies in STXBP1 encephalopathy

scientific article

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

scientific article published on 06 June 2018

Hemiconvulsion-hemiplegia-epilepsy evolving to contralateral hemi-Lennox-Gastaut-like phenotype

scientific article published on 16 February 2018

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

scientific article published in November 2017

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

scientific article published on 26 August 2016

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

scientific article

How gene discovery has transformed management of people with epilepsy

scientific article published on 10 January 2020

How long for epilepsy remission in the ILAE definition?

scientific article published in August 2017

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

scientific article

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

scientific article

ILAE official report: a practical clinical definition of epilepsy

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

In response to 'Volume loss and altered neuronal composition in the brainstem reticular zone may not cause sudden unexpected death in epilepsy'

scientific article published on 07 August 2020

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

Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy

scientific article published on 01 May 2000

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

scientific article published on 07 May 2018

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

scientific article (publication date: August 2002)

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

scientific article published on 12 March 2020

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

scientific article published on 01 October 2019

Instruction manual for the ILAE 2017 operational classification of seizure types

scientific article published on 8 March 2017

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 the ketogenic diet effective in specific epilepsy syndromes?

scientific article published on 15 March 2012

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

Keeping people with epilepsy safe during the Covid-19 pandemic

scientific article published on 23 April 2020

LGI1 mutations in temporal lobe epilepsies

scientific article

Lamotrigine can be beneficial in patients with Dravet syndrome

scientific article published on 22 September 2014

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

scientific article published on 03 January 2020

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

scientific article

Locus for febrile seizures

scientific article published on 01 June 2000

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

scientific article

Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech

scientific article published on 22 July 2019

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

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

scientific journal article

MRI and pathology correlations in the medulla in SUDEP: A post-mortem study

scientific article published on 19 June 2020

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

scientific article

Medullary tyrosine hydroxylase catecholaminergic neuronal populations in sudden unexpected death in epilepsy

scientific article published on 15 August 2020

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

scientific article published on 18 April 2013

Milder phenotypes of glucose transporter type 1 deficiency syndrome

scientific article published on 24 March 2011

Mirror neuron system involvement in empathy: a critical look at the evidence

scientific article published on January 2011

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

Molecular epidemiology of monogenic epilepsies answers key clinical questions

scientific article published on 01 August 2019

Mortality in Dravet syndrome

scientific article published on 26 October 2016

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

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Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

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Motor cortex localization using functional MRI and transcranial magnetic stimulation

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

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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

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

scientific article published on 22 January 2016

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

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Mutations in KCNT1 cause a spectrum of focal epilepsies.

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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

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Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

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

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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

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Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

scientific article published on 01 August 2001

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

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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.

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

scientific article published on 20 July 2016

Myoclonic Absence Seizures in Dravet Syndrome

scientific article published on 24 January 2017

Myoclonic absence seizures with complex gestural automatisms

scientific article published on 19 December 2017

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

scientific article published on 05 May 2015

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

scientific article published on 04 November 2020

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+).

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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

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Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

scientific article published on 27 October 2009

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5

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

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Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS.

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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 concepts in classification of the epilepsies: entering the 21st century

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New genes for focal epilepsies with speech and language disorders

scientific article published on June 2015

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

scientific article published on 04 February 2019

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

scientific article published on 9 August 2017

Occipital epilepsies: identification of specific and newly recognized syndromes

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Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.

scientific article published on 8 March 2017

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.

scientific article published on 21 May 2018

Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures

scientific article published on 12 July 2010

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum

scientific article published on 28 August 2020

PIK-ing the right gene for polymicrogyria.

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PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

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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

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Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

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Parental health spillover effects of paediatric rare genetic conditions

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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

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Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

scientific article published on 04 March 2019

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

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

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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

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Phenotypic characterization of an alpha 4 neuronal nicotinic acetylcholine receptor subunit knock-out mouse

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

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Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

scientific article published on 9 September 2010

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

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

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions

scientific article published on 18 July 2020

Progressive gait deterioration in adolescents with Dravet syndrome.

scientific article published in July 2012

Protocol for a single patient therapy plan: A randomised, double-blind, placebo-controlled N-of-1 trial to assess the efficacy of cannabidiol in patients with intractable epilepsy

scientific article published on 23 September 2020

Quinidine in the treatment of KCNT1-positive epilepsies

scientific article published on 15 September 2015

Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study

scientific article published on 15 October 2018

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

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

scientific article published on 7 February 2017

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

scientific article published on 31 January 2019

Recent advances in the molecular genetics of epilepsy.

scientific article published on 06 March 2013

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

scientific article published on 30 April 2019

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

scientific article published on 17 April 2014

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

scientific article published on 14 February 2013

Refining analyses of copy number variation identifies specific genes associated with developmental delay

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Reflex seizures in patients with malformations of cortical development and refractory epilepsy

scientific article published on 01 August 2005

Reply

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Response to the numbering of seizure types.

scientific article published in July 2017

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

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

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

scientific article published on 29 July 2013

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

scientific article published on 12 December 2019

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

scientific article published on 12 March 2009

SCN1A mutations and epilepsy

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SCN1A testing for epilepsy: application in clinical practice.

scientific article published on 15 April 2013

SCN1A-related phenotypes: Epilepsy and beyond

scientific article published on 01 December 2019

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

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

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SCN8A encephalopathy: Research progress and prospects

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SLC25A22 is a novel gene for migrating partial seizures in infancy.

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

scientific article published on 24 April 2019

SRPX2 mutations in disorders of language cortex and cognition

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Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial

scientific article published in September 2021

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy

scientific article published on 03 March 2019

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

scientific article published on 17 June 2019

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

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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

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Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants

scientific article published on 24 December 2020

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

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Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

scientific article published on 28 April 2020

Severe infantile epilepsies: molecular genetics challenge clinical classification

scientific article published in March 2003

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

scientific article published on 24 November 2017

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

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

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Sleep problems in Dravet syndrome: a modifiable comorbidity.

scientific article published on 7 November 2017

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

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Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

scientific article published in September 2003

Sodium-channel defects in benign familial neonatal-infantile seizures

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

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

scientific article published on 02 July 2019

Somatic mutations in cerebral cortical malformations

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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

scientific article published on 25 January 2019

Speech and language in bilateral perisylvian polymicrogyria: a systematic review

scientific article published on 25 January 2019

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

Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study.

scientific article published on 23 February 2018

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

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Susceptibility genes for complex epilepsy

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

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

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

scientific article published on 13 February 2017

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

scientific article published on 4 October 2006

Thalamic atrophy in childhood absence epilepsy

scientific article published in February 2006

The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?

scientific article published on 5 April 2018

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

scientific article published on 01 December 2019

The Key to FAME: Intronic Repeat Expansions Cause Human Epilepsies.

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

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The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy

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

scientific article published on 11 August 2010

The effect of the ketogenic diet on the developing skeleton

scientific article published on 26 July 2017

The epilepsy phenome/genome project.

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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

scientific article published on 6 April 2018

The epileptology of GNB5 encephalopathy

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The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients

scientific article published on 25 April 2017

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

scientific article published on 16 November 2015

The genetics of Dravet syndrome.

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The genetics of human epilepsy

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The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy

scientific article published on 16 February 2018

The management of epilepsy in children and adults.

scientific article published in March 2018

The new definition and classification of seizures and epilepsy

scientific article published on 28 November 2017

The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018

The phenotypic spectrum of SCN8A encephalopathy

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The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

scientific article published on 07 January 2021

The spectrum of SCN1A-related infantile epileptic encephalopathies

scientific article published in March 2007

The ventrolateral medulla and medullary raphe in sudden unexpected death in epilepsy.

scientific article published on 28 March 2018

Therapeutic use of medicinal cannabis in difficult to manage epilepsy

scientific article published on 05 September 2018

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

scientific article published in September 2010

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

scientific article published on 27 October 2020

Transcriptome analysis of a ring chromosome 20 patient cohort

scientific article published on 18 November 2020

Transition to adult life in the monogenic epilepsies

scientific article published in August 2014

Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse

scientific article published on January 2009

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome

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

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Vaccination Triggers, Rather Than Causes, Seizures

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Vaccination and Dravet syndrome – Authors' reply

Vaccination, seizures and 'vaccine damage'.

scientific article published on April 2007

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

scientific article published on 24 October 2015

What is at stake in a classification?

When Monogenic Isn't Monogenic-Unravelling the Oligogenic Architecture of the Developmental and Epileptic Encephalopathies

scientific article published on 11 October 2019

Why should a neurologist worry about climate change?

scientific article published on 01 April 2019

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

scientific article (publication date: 13 August 2002)

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

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encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

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