Molecular genetics of Dravet syndrome

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

(2010) Tojo Nakayama et al.   HUMAN MUTATION

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Anne M McIntosh et al.   LANCET NEUROLOGY

Protocadherin 19 mutations in girls with infantile-onset epilepsy

(2010) C. Marini et al.   NEUROLOGY

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

(2010) Lata Vadlamudi et al.   NEW ENGLAND JOURNAL OF MEDICINE

ParentalSCN1Amutation mosaicism in familial Dravet syndrome

(2009) KK Selmer et al.   CLINICAL GENETICS

SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

(2009) Carla Marini et al.   EPILEPSIA

TheSCN1Avariant database: a novel research and diagnostic tool

(2009) Lieve RF Claes et al.   HUMAN MUTATION

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

(2009) G. A. Patino et al.   JOURNAL OF NEUROSCIENCE

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

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

(2009) Christel Depienne et al.   PLoS Genetics

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS

Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases

(2008) W. A. Catterall et al.   JOURNAL OF NEUROSCIENCE

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

(2008) Leanne M Dibbens et al.   NATURE GENETICS