Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report

RATIONALE: The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese f...

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Detalles Bibliográficos
Autores principales: Huang, Qi, Yu, Lu, Ma, Meigang, Qi, Hengchang, Wu, Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408085/
https://www.ncbi.nlm.nih.gov/pubmed/30813219
http://dx.doi.org/10.1097/MD.0000000000014698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408085/
https://www.ncbi.nlm.nih.gov/pubmed/30813219
http://dx.doi.org/10.1097/MD.0000000000014698

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