title: Mechanisms underlying epilepsies associated with sodium channel mutations.
abstract: Voltage-gated sodium channels provide the molecular basis for the generation and propagation of action potentials. It is therefore not surprising that mutations in different subunits of this ion channel family are the most common cause of genetic epilepsies. Voltage-gated sodium channel mutations are associated with different seizure phenotypes including benign familial neonatal-infantile convulsions, genetic epilepsy with febrile seizures plus, and Dravet syndrome. Unraveling the pathomechanisms that underlie these genetic epilepsies is challenging, and the complex genotype-phenotype correlations are still not fully understood.
authors.affiliation: Institute of Human Genetics, University Hospital, Ludwig-Maximilians-University, Munich, Germany. Electronic address: ortrud.steinlein@med.uni-muenchen.de.
authors.forename: Ortrud K
authors.initials: OK
authors.lastname: Steinlein
mesh_terms: D004827:Epilepsy / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D061566:Voltage-Gated Sodium Channels / Q000235:genetics*
chemical_list: D061566:Voltage-Gated Sodium Channels
keywords: Dravet syndrome; GEFS(+); SCN1A; epilepsy; voltage-gated sodium channels