Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, Takuya Naruto, Kenji Kurosawa

ABSTRACT

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 exhibited a heterozygous de novo missense mutation in SCN2A. She developed seizures during the course of illness. This case suggests that the phenotype of patients with heterozygous SCN2A mutations can be variable. More... »

PAGES

20

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0019-5

DOI

http://dx.doi.org/10.1038/s41439-018-0019-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1105708194

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30062040


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