Journal article

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

Ruwei Xu, Evan A Thomas, Misty Jenkins, Elena V Gazina, Cindy Chiu, Sarah E Heron, John C Mulley, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou

Molecular and Cellular Neurosciences | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2007

DOI: 10.1016/j.mcn.2007.03.003

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Keywords

Febrile
Bfnis
Mutation
Computer Simulation
Developmentally Regulated Splicing
Gating Properties
Neurosciences & Neurology
Electric Stimulation
Sodium Channels
Dysfunction
Nerve Tissue Proteins
Isoforms
Humans
Neonatal-Infantile Seizures
Models, Biological
Alpha-Subunit
Life Sciences & Biomedicine
Rna Splicing
Gene Scn2a
Dna Mutational Analysis
Infant
Dorsal-Root Ganglia
Neurosciences
Dose-Response Relationship, Radiation
Epilepsy
Cell Line, Transformed
Cause Generalized Epilepsy
Membrane Potentials
Science & Technology
Adult
Nav1.2 Voltage-Gated Sodium Channel
Rat-Brain