Article
Genetics of human epilepsies: Continuing progress.
Presse medicale (Paris, France : 1983) - 1 Mar 2018
Szepetowski Pierre
Abstract excerpt
Numerous epilepsy genes have been identified in the last years, mostly in the (rare) monogenic forms and thanks to the increased availability and the decreased cost of next-generation sequencing approaches. Besides the somehow expected group of epilepsy genes encoding various ion channel subunits (e.g. sodium or potassium channel subunits, or GABA receptors, or glutamate-gated NMDA receptors), more diversity has...
Topics
- Epilepsy
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation
- Phenotype
