Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

SCN2A mutations are primarily associated with a variety of epilepsy syndromes. Recently, SCN2A has been reported as a gene responsible for nonsyndromic intellectual disability or autism spectrum disorders. Here, we present a case of a 12-year-old girl with nonsyndromic intellectual disability who ex...

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Detalles Bibliográficos
Autores principales: Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054605/
https://www.ncbi.nlm.nih.gov/pubmed/30062040
http://dx.doi.org/10.1038/s41439-018-0019-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054605/
https://www.ncbi.nlm.nih.gov/pubmed/30062040
http://dx.doi.org/10.1038/s41439-018-0019-5

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