Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Hernandez, Ciria C., Klassen, Tara L., Jackson, Laurel G., Gurba, Katharine, Hu, Ningning, Noebels, Jeffrey L., Macdonald, Robert L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5021343/
https://ncbi.nlm.nih.gov/pubmed/27622563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0162883
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !