Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus

Objective: Nonconvulsive status epilepticus (NCSE) is an uncommon clinical manifestation in patients with TBC1D24 mutations. In addition, NCSE has not been reported as a syndrome together with cerebellar ataxia and ophthalmoplegia. Methods: We herein report the clinical and genetic features of a fou...

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Detalles Bibliográficos
Autores principales: Li, Jingjing, Liu, Ruihong, Feng, Huiyu, Zhang, Jian, Wang, Dilong, Wang, Yiming, Zeng, Jinsheng, Fan, Yuhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079244/
https://www.ncbi.nlm.nih.gov/pubmed/30108545
http://dx.doi.org/10.3389/fneur.2018.00623

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