What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report

BACKGROUND: Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies. In the present study, a novel variant in DEPDC5 was detected in the patient with focal epilepsy and his healthy father. We aimed to analyze...

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Detalles Bibliográficos
Autores principales: Gu, Chunyu, Lu, Xiaowei, Ma, Jinhui, Pu, Linjie, Zhi, Xiufang, Shu, Jianbo, Li, Dong, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338555/
https://www.ncbi.nlm.nih.gov/pubmed/35907814
http://dx.doi.org/10.1186/s12887-022-03515-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338555/
https://www.ncbi.nlm.nih.gov/pubmed/35907814
http://dx.doi.org/10.1186/s12887-022-03515-8

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