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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Dades bibliogràfiques
Publicat a:Brain Commun
Autors principals: Hernandez, Ciria C, Tian, XiaoJuan, Hu, Ningning, Shen, Wangzhen, Catron, Mackenzie A, Yang, Ying, Chen, Jiaoyang, Jiang, Yuwu, Zhang, Yuehua, Macdonald, Robert L
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2021
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Original Article
Accés en línia: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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