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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

Epilepsia (Copenhagen), 2016-06, Vol.57 (6), p.994-1003

2016

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STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients

Epilepsia (Copenhagen), 2011-10, Vol.52 (10), p.1820-1827

2011

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Cannabidiol Treatment for Adult Patients with Drug‐Resistant Epilepsies: A Real‐World Study in a Tertiary Center

Brain and behavior, 2024-11, Vol.14 (11), p.e70122

2024

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

PLoS genetics, 2009-02, Vol.5 (2), p.e1000381-e1000381

2009

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First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Nature genetics, 2001-05, Vol.28 (1), p.46-48

2001

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Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

Molecular autism, 2013-12, Vol.4 (1), p.47-47, Article 47

2013

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Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

Human mutation, 2006-04, Vol.27 (4), p.389-389

2006

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Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

Human mutation, 2009-03, Vol.30 (3), p.397-405

2009

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Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions

Human molecular genetics, 1998-05, Vol.7 (5), p.913-918

1998

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Malignant catatonia due to anti-NMDA-receptor encephalitis in a 17-year-old girl: case report

Child and adolescent psychiatry and mental health, 2011-05, Vol.5 (1), p.15-15, Article 15

2011

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Genes in infantile epileptic encephalopathies

Epilepsia (Copenhagen), 2010-12, Vol.51 (s5), p.69-69, Article 69

2010

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Familial form of typical childhood absence epilepsy in a consanguineous context

Epilepsia (Copenhagen), 2010-09, Vol.51 (9), p.1889-1893

2010

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Differential distribution of the normal and mutated forms of huntingtin in the human brain

Annals of neurology, 1997-11, Vol.42 (5), p.712-719

1997

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A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

Brain & development (Tokyo. 1979), 2011-02, Vol.33 (2), p.131-139

2011

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

Epilepsy research, 2007-08, Vol.76 (1), p.41-48

2007

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Heterogeneous Intracellular Localization and Expression of Ataxin-3

Neurobiology of disease, 1998-11, Vol.5 (5), p.335-347

1998

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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Journal of medical genetics, 2010-06, Vol.47 (6), p.404-410

2010

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Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis

Biological psychiatry (1969), 2008-10, Vol.64 (7), p.577-582

2008

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Benefits of vagus nerve stimulation on psychomotor functions in patients with severe drug-resistant epilepsy

Epilepsy research, 2023-12, Vol.198, p.107260-107260, Article 107260

2023

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A review of the natural history of Sturge–Weber syndrome through adulthood

Journal of neurology, 2022-09, Vol.269 (9), p.4872-4883

2022

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Mutations of SCN1A , encoding a neuronal sodium channel, in two families with GEFS+2

Nature genetics, 2000-04, Vol.24 (4), p.343-345

2000

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Fever, genes, and epilepsy

Lancet neurology, 2004-07, Vol.3 (7), p.421-430

2004

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N3 sleep with rapid eye movements in a PCDH19 mutation: a new dissociate state between N3 and REM sleep

Sleep medicine, 2020-10, Vol.74, p.341-342

2020

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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Cannabidiol Treatment for Adult Patients with Drug‐Resistant Epilepsies: A Real‐World Study in a Tertiary Center

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions

Malignant catatonia due to anti-NMDA-receptor encephalitis in a 17-year-old girl: case report

Genes in infantile epileptic encephalopathies

Familial form of typical childhood absence epilepsy in a consanguineous context

Differential distribution of the normal and mutated forms of huntingtin in the human brain

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

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

Heterogeneous Intracellular Localization and Expression of Ataxin-3

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis

Benefits of vagus nerve stimulation on psychomotor functions in patients with severe drug-resistant epilepsy

A review of the natural history of Sturge–Weber syndrome through adulthood

Mutations of SCN1A , encoding a neuronal sodium channel, in two families with GEFS+2

Fever, genes, and epilepsy

N3 sleep with rapid eye movements in a PCDH19 mutation: a new dissociate state between N3 and REM sleep

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