Channelpedia

PubMed 20346423


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Nav1.3



Title: Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

Authors: Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Yann-Jang Chen, Fuu-Jen Tsai, Pei-Chen Wu, Wayseen Wang

Journal, date & volume: Eur J Med Genet, 2010 Jul-Aug , 53, 217-20

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20346423


Abstract
We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2-->q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A.