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PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation

INTRODUCTION: PRRT2 is a major causative gene for self-limited familial neonatal-infantile epilepsy, paroxysmal kinesigenic dyskinesia, and paroxysmal kinesigenic dyskinesia with infantile convulsions. Voluntary movement trigger is prominent in adolescence and adulthood, but the triggers are unknown...

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Detalles Bibliográficos
Autores principales: Liu, De-Tian, Tang, Xue-Qing, Wan, Rui-Ping, Luo, Sheng, Guan, Bao-Zhu, Li, Bin, Liu, Li-Hong, Li, Bing-Mei, Liu, Zhi-Gang, Xie, Long-Shan, Yi, Yong-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361874/
https://www.ncbi.nlm.nih.gov/pubmed/35959395
http://dx.doi.org/10.3389/fneur.2022.836048