Abstract
The past decade was a period of dramatic progress in our understanding of the molecular basis of seizure disorders. This progress was based on advances in human genetics that made it possible, for the first time, to identify specific genes responsible for nonsyndromic inherited epilepsy. Some of these genes encode components of neuronal signaling pathways, including sodium, potassium and chloride channels, GABA receptors, and nicotinic acetylcholine receptors. Three epilepsy genes without a well-defined role in neuronal transmission were also identified: LGI1, MASS1, and EHFC1. In addition to their role in rare, monogenic inherited epilepsies, these genes also provide clues regarding the likely etiology of common, polygenic epilepsy disorders.
Original language | English (US) |
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Title of host publication | Encyclopedia of Basic Epilepsy Research |
Publisher | Elsevier |
Pages | 369-374 |
Number of pages | 6 |
ISBN (Electronic) | 9780123739612 |
DOIs | |
State | Published - Jan 1 2009 |
Keywords
- Channelome
- GEFS+
- Potassium channel
- SMEI
- Sodium channel
- Vaccination
ASJC Scopus subject areas
- General Medicine
- General Neuroscience