Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures

M. Bartnik, A. Chun-Hui Tsai, Z. Xia, Sw Cheung, P. Stankiewicz

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Mutations in genes encoding voltage-gated sodium channels are significant factors in the etiology of neurological diseases and psychiatric disorders, including various types of idiopathic epilepsy. Using a clinical exon-targeted oligonucleotide array comparative genomic hybridization (aCGH), we have identified a de novo∼110-kb deletion involving exons 1-2 of SCN2A and non-coding exon 1a of SCN3A in a 25-year-old female with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures with abnormal EEG. We propose that haploinsufficiency of SCN2A may play an important role in the genetic basis of neurodevelopmental and neurobehavioral disorders and emphasize the efficacy of detecting exonic copy-number variation (CNV) by exon-targeted oligo aCGH.

Original languageEnglish (US)
Pages (from-to)191-195
Number of pages5
JournalClinical Genetics
Volume80
Issue number2
DOIs
StatePublished - Aug 1 2011

Keywords

  • Array CGH
  • Epilepsy
  • SCN1A
  • SCN2A
  • SCN3A
  • Sodium channels

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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