Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABA(A) receptors

Dravet syndrome is a rare, catastrophic epileptic encephalopathy that begins in the first year of life, usually with febrile or afebrile hemiclonic or generalized tonic–clonic seizures followed by status epilepticus. De novo variants in genes that mediate synaptic transmission such as SCN1A and PCDH...

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Detalhes bibliográficos
Publicado no:Brain Commun
Main Authors: Hernandez, Ciria C, Tian, XiaoJuan, Hu, Ningning, Shen, Wangzhen, Catron, Mackenzie A, Yang, Ying, Chen, Jiaoyang, Jiang, Yuwu, Zhang, Yuehua, Macdonald, Robert L
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8176149/
https://ncbi.nlm.nih.gov/pubmed/34095830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcab033
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