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...

Descripción completa

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
_version_ 1783341022794743808
author Yokoi, Takayuki
Enomoto, Yumi
Tsurusaki, Yoshinori
Naruto, Takuya
Kurosawa, Kenji
author_facet Yokoi, Takayuki
Enomoto, Yumi
Tsurusaki, Yoshinori
Naruto, Takuya
Kurosawa, Kenji
author_sort Yokoi, Takayuki
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6054605
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-60546052018-07-30 Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy Yokoi, Takayuki Enomoto, Yumi Tsurusaki, Yoshinori Naruto, Takuya Kurosawa, Kenji Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-07-20 /pmc/articles/PMC6054605/ /pubmed/30062040 http://dx.doi.org/10.1038/s41439-018-0019-5 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Yokoi, Takayuki
Enomoto, Yumi
Tsurusaki, Yoshinori
Naruto, Takuya
Kurosawa, Kenji
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
title Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
title_full Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
title_fullStr Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
title_full_unstemmed Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
title_short Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
title_sort nonsyndromic intellectual disability with novel heterozygous scn2a mutation and epilepsy
topic Data Report
url 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
work_keys_str_mv AT yokoitakayuki nonsyndromicintellectualdisabilitywithnovelheterozygousscn2amutationandepilepsy
AT enomotoyumi nonsyndromicintellectualdisabilitywithnovelheterozygousscn2amutationandepilepsy
AT tsurusakiyoshinori nonsyndromicintellectualdisabilitywithnovelheterozygousscn2amutationandepilepsy
AT narutotakuya nonsyndromicintellectualdisabilitywithnovelheterozygousscn2amutationandepilepsy
AT kurosawakenji nonsyndromicintellectualdisabilitywithnovelheterozygousscn2amutationandepilepsy

Ejemplares similares