List of works - Leanne Dibbens

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

scientific article

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

scientific article

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

scientific article

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

scientific article

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

scientific journal article

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

scientific article published on February 2013

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

scientific article

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

scientific article published in April 2013

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings

scientific article published on 02 August 2016

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Channelopathies in idiopathic epilepsy

scientific article published on April 2007

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

scientific article published on 2 November 2011

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

scientific article published on 25 September 2013

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

scientific article

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

scientific article published on 19 July 2010

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

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

scientific article published on 08 February 2009

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

article

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)

Epileptic spasms are a feature of DEPDC5 mTORopathy.

scientific article published on 23 July 2015

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

scientific article

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

scientific article published on 24 December 2015

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

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

scientific article published on 3 March 2012

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

GOSR2: a progressive myoclonus epilepsy gene.

scientific article published on 12 September 2016

Gene expression analysis in absence epilepsy using a monozygotic twin design

scientific article

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

scientific article published in May 2004

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

scientific article published on 25 August 2017

Genetic variations and associated pathophysiology in the management of epilepsy.

scientific article published on 08 August 2011

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

scientific article

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

scientific article published in February 2010

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

scientific article

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

article

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

scientific article published on 23 May 2007

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

scientific article

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

scientific article

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

scientific article published on 09 June 2021

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling.

scientific article published on 3 October 2017

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

scientific article published on 25 December 2018

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

article

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

scientific article published on 22 January 2016

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

scientific article published on 01 June 2011

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

scientific journal article

Mutations in KCNT1 cause a spectrum of focal epilepsies.

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 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

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

scientific article

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

scientific article

Novel ID gene CSNK2B: The crossover from molecular diagnosis to research continues

scientific article published on 01 September 2017

PRRT2 mutation in Japanese children with benign infantile 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

Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies

scientific article published on 01 March 2011

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

article

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

scientific article

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

scientific article

Reply

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

scientific article published on 23 January 2013

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

scientific article published on 29 July 2013

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

scientific article

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 variations and response to multiple antiepileptic drugs

scientific article

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

scientific article

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

scientific article published in September 2003

Susceptibility genes for complex epilepsy

scientific article

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

scientific article published on 4 October 2006

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

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

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

scientific article

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

scientific article

“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!

scientific article published on 01 September 2011

List of works by Leanne Dibbens

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

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

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

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

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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

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

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

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

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

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

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Channelopathies in idiopathic epilepsy

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

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

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

Do mutations in SCN1B cause Dravet syndrome?

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

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

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

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

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

Epileptic spasms are a feature of DEPDC5 mTORopathy.

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

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

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

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

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

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

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

GOSR2: a progressive myoclonus epilepsy gene.

Gene expression analysis in absence epilepsy using a monozygotic twin design

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

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Genetic variations and associated pathophysiology in the management of epilepsy.

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

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

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

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

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

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

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling.

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

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

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

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

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Mutations in KCNT1 cause a spectrum of focal epilepsies.

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

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

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

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

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

Novel ID gene CSNK2B: The crossover from molecular diagnosis to research continues

PRRT2 mutation in Japanese children with benign infantile epilepsy.

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

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies

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

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

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

Reply

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

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

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

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

SCN1A mutations and epilepsy

SCN1A variations and response to multiple antiepileptic drugs

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

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

Susceptibility genes for complex epilepsy

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

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

The spectrum of SCN1A-related infantile epileptic encephalopathies

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