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Deleterious Rare Variants Reveal Risk for Loss of GABA(A) Receptor Function in Patients with Genetic Epilepsy and in the General Population
Genetic epilepsies (GEs) account for approximately 50% of all seizure disorders, and familial forms include mutations in single GABA(A) receptor subunit genes (GABRs). In 144 sporadic GE cases (GECs), exome sequencing of 237 ion channel genes identified 520 GABR variants. Among these variants, 33 ra...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021343/ https://www.ncbi.nlm.nih.gov/pubmed/27622563 http://dx.doi.org/10.1371/journal.pone.0162883 |