Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy

Progressive myoclonic epilepsy (PME) is a rare neurodegenerative disease, characterized by myoclonic seizures and tonic clonic seizures, with genetical and phenotypical heterogeneity. The semaphorin 6B (SEMA6B) gene has been recently reported a causal gene of PME. Independent studies are warranted t...

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Detalles Bibliográficos
Autores principales: Xiaozhen, Song, Fan, Yuan, Fang, Yuan, Xiaoping, Lan, Jia, Jia, Wuhen, Xu, Xiaojun, Tang, Jun, Shen, Yucai, Chen, Hong, Zhang, Guang, He, Shengnan, Wu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8129541/
https://www.ncbi.nlm.nih.gov/pubmed/34017830
http://dx.doi.org/10.3389/fcell.2021.633819

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8129541/
https://www.ncbi.nlm.nih.gov/pubmed/34017830
http://dx.doi.org/10.3389/fcell.2021.633819

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