Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy

SCN1A gain of function in early infantile encephalopathy

(2019) Géza Berecki et al.   ANNALS OF NEUROLOGY

The spectrum of intermediate SCN 8A ‐related epilepsy

(2019) Katrine M. Johannesen et al.   EPILEPSIA

Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort

(2019) Alejandra C. Encinas et al.   EPILEPSIA

SCN8A: When Neurons Are So Excited, They Just Can’t Hide It

(2019) Tracy S. Gertler et al.   Epilepsy Currents

Mutations in SCN3A cause early infantile epileptic encephalopathy

(2018) Tariq Zaman et al.   ANNALS OF NEUROLOGY

Distinct modulation of inactivation by a residue in the pore domain of voltage-gated Na+ channels: mechanistic insights from recent crystal structures

(2018) Rene Cervenka et al.   Scientific Reports

Not all SCN1A epileptic encephalopathies are Dravet syndrome

(2017) Lynette G. Sadleir et al.   NEUROLOGY

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

(2017) Michael F. Hammer et al.   PLoS One

The Segregated Expression of Voltage-Gated Potassium and Sodium Channels in Neuronal Membranes: Functional Implications and Regulatory Mechanisms

(2017) Maël Duménieu et al.   Frontiers in Cellular Neuroscience

Clinical implications ofSCN1Amissense and truncation variants in a large Japanese cohort with Dravet syndrome

(2016) Atsushi Ishii et al.   EPILEPSIA

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2015) Heng Meng et al.   HUMAN MUTATION

The hitchhiker’s guide to the voltage-gated sodium channel galaxy

(2015) Christopher A. Ahern et al.   JOURNAL OF GENERAL PHYSIOLOGY

Voltage-Gated Sodium Channels: Structure, Function, Pharmacology, and Clinical Indications

(2015) Manuel de Lera Ruiz et al.   JOURNAL OF MEDICINAL CHEMISTRY

Selectivity filters and cysteine-rich extracellular loops in voltage-gated sodium, calcium, and NALCN channels

(2015) Robert F. Stephens et al.   Frontiers in Physiology

Ion Selectivity Strategies of Sodium Channel Selectivity Filters

(2014) Todor Dudev et al.   ACCOUNTS OF CHEMICAL RESEARCH

Structure and function of voltage-gated sodium channels at atomic resolution

(2013) William A. Catterall   EXPERIMENTAL PHYSIOLOGY

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS