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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Front Cell Dev Biol
Hlavní autoři: Xiaozhen, Song, Fan, Yuan, Fang, Yuan, Xiaoping, Lan, Jia, Jia, Wuhen, Xu, Xiaojun, Tang, Jun, Shen, Yucai, Chen, Hong, Zhang, Guang, He, Shengnan, Wu
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2021
Témata:
Cell and Developmental Biology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8129541/
https://ncbi.nlm.nih.gov/pubmed/34017830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.633819
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky