In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

An update on the advancing high-throughput screening techniques for patch clamp-based ion channel screens: implications for drug discovery

(2018) Alison Obergrussberger et al.   Expert Opinion on Drug Discovery

Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death

(2018) Kay L. Richards et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Current Treatment Strategies and Future Treatment Options for Dravet Syndrome

(2018) Julie Ziobro et al.   Current Treatment Options in Neurology

SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome

(2017) Thi Thu Hang Do et al.   Journal of Clinical Neurology

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

(2017) Valentina Cetica et al.   NEUROLOGY

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel

(2017) Elaine C. Wirrell et al.   PEDIATRIC NEUROLOGY

Mortality in Dravet syndrome

(2016) Monica S. Cooper et al.   EPILEPSY RESEARCH

Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain

(2016) Jeremiah D. Osteen et al.   NATURE

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq

(2016) Nicole A. Hawkins et al.   PLoS Genetics

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

(2016) Yishan Sun et al.   eLife

Identification and Electrophysiological Evaluation of 2-Methylbenzamide Derivatives as Nav1.1 Modulators

(2015) François Crestey et al.   ACS Chemical Neuroscience

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

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

(2015) Heng Meng et al.   HUMAN MUTATION

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

(2015) Giulia Bechi et al.   NEUROBIOLOGY OF DISEASE

Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome

(2015) Moran Rubinstein et al.   NEUROBIOLOGY OF DISEASE

Incidence of Dravet Syndrome in a US Population

(2015) Y. W. Wu et al.   PEDIATRICS

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome

(2014) Nathalie Villeneuve et al.   EPILEPSY & BEHAVIOR

Reciprocal Changes in Phosphorylation and Methylation of Mammalian Brain Sodium Channels in Response to Seizures

(2014) Je-Hyun Baek et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

(2014) Akshitkumar M. Mistry et al.   NEUROBIOLOGY OF DISEASE

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

(2013) Yu Liu et al.   ANNALS OF NEUROLOGY

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome

(2013) A. R. Miller et al.   GENES BRAIN AND BEHAVIOR

Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons

(2013) Jiao Jiao et al.   HUMAN MOLECULAR GENETICS

Diagnosis and long-term course of Dravet syndrome

(2012) Ingrid E. Scheffer   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maturation of EEG oscillations in children with sodium channel mutations

(2011) Gregory L. Holmes et al.   BRAIN & DEVELOPMENT

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

(2011) Linda Volkers et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Genotype-phenotype associations in SCN1A-related epilepsies

(2011) S. M. Zuberi et al.   NEUROLOGY

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

(2010) Renzo Guerrini et al.   EPILEPSIA

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols