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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hernandez, Ciria C, Tian, XiaoJuan, Hu, Ningning, Shen, Wangzhen, Catron, Mackenzie A, Yang, Ying, Chen, Jiaoyang, Jiang, Yuwu, Zhang, Yuehua, Macdonald, Robert L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176149/
https://www.ncbi.nlm.nih.gov/pubmed/34095830
http://dx.doi.org/10.1093/braincomms/fcab033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176149/
https://www.ncbi.nlm.nih.gov/pubmed/34095830
http://dx.doi.org/10.1093/braincomms/fcab033

Ejemplares similares