Pitfalls in genetic testing: the story of missedSCN1Amutations

Genetic screening and diagnosis in epilepsy?

(2015) Sanjay M. Sisodiya   CURRENT OPINION IN NEUROLOGY

The incidence ofSCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

(2015) Allan Bayat et al.   EPILEPSIA

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Application of whole exome sequencing in undiagnosed inherited polyneuropathies

(2014) C. J. Klein et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

SCN1Atesting for epilepsy: Application in clinical practice

(2013) Shinichi Hirose et al.   EPILEPSIA

Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

(2013) Eija Gaily et al.   EPILEPSIA

Stepping stones in DNA sequencing

(2012) Henrik Stranneheim et al.   Biotechnology Journal

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

(2012) A. Brunklaus et al.   BRAIN

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Genotype-phenotype associations in SCN1A-related epilepsies

(2011) S. M. Zuberi 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

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

(2009) Christel Depienne et al.   PLoS Genetics

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

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