SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family

Toothbrushing epilepsy is a rare form of reflex epilepsy (RE) with sporadic incidence. To characterize the genetic profile of reflex epilepsy patients with tooth brushing-induced seizures in a Chinese family. Solo clinical whole-exome sequencing (WES) of the proband, a 37-year-old Chinese man, was p...

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Detalles Bibliográficos
Autores principales: Zhou, Qin, Wang, Jingwei, Xia, Li, Li, Rong, Zhang, Qiumin, Pan, Songqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488375/
https://www.ncbi.nlm.nih.gov/pubmed/34616357
http://dx.doi.org/10.3389/fneur.2021.736977

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488375/
https://www.ncbi.nlm.nih.gov/pubmed/34616357
http://dx.doi.org/10.3389/fneur.2021.736977

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