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...

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Detalles Bibliográficos
Autores principales: Hernandez, Ciria C., Klassen, Tara L., Jackson, Laurel G., Gurba, Katharine, Hu, Ningning, Noebels, Jeffrey L., Macdonald, Robert L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
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

Internet

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

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