Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

Altered Function of theSCN1AVoltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities

(2010) Melinda S. Martin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

Functional reciprocity between Na+ channel Nav1.6 and  1 subunits in the coordinated regulation of excitability and neurite outgrowth

(2010) W. J. Brackenbury et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

(2009) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Parkinson's Disease Patient-Derived Induced Pluripotent Stem Cells Free of Viral Reprogramming Factors

(2009) Frank Soldner et al.   CELL

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

(2009) Ligia A. Papale et al.   HUMAN MOLECULAR GENETICS

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

Fine mapping of an epilepsy modifier gene on mouse Chromosome 19

(2009) Sarah K. Bergren et al.   MAMMALIAN GENOME

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

(2009) Bin Tang et al.   NEUROBIOLOGY OF DISEASE

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain

(2009) Jun Wang et al.   NEUROSCIENCE RESEARCH

Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies

(2009) Jing-Qiong Kang et al.   TRENDS IN MOLECULAR MEDICINE

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

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Voltage-gated sodium channels in pain states: Role in pathophysiology and targets for treatment

(2008) Sulayman D. Dib-Hajj et al.   BRAIN RESEARCH REVIEWS

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures

(2008) Sunita N. Misra et al.   EPILEPSIA

Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis

(2008) Hal Blumenfeld et al.   EPILEPSIA

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

(2008) Katherine D. Holland et al.   NEUROSCIENCE LETTERS

An Emerging Role for Voltage-Gated Na+ Channels in Cellular Migration: Regulation of Central Nervous System Development and Potentiation of Invasive Cancers

(2008) William J. Brackenbury et al.   NEUROSCIENTIST

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE