Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies

We performed next generation sequencing on 1696 patients with epilepsy and intellectual disability using a gene panel with 480 epilepsy-related genes including all GABA(A) receptor subunit genes (GABRs), and we identified six de novo GABR mutations, two novel GABRA5 mutations (c.880G>T, p.V294F a...

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Dettagli Bibliografici
Pubblicato in:Brain
Autori principali: Hernandez, Ciria C, XiangWei, Wenshu, Hu, Ningning, Shen, Dingding, Shen, Wangzhen, Lagrange, Andre H, Zhang, Yujia, Dai, Lifang, Ding, Changhong, Sun, Zhaohui, Hu, Jiasheng, Zhu, Hongmin, Jiang, Yuwu, Macdonald, Robert L
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2019
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6598634/
https://ncbi.nlm.nih.gov/pubmed/31056671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz123
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