New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy

S. Tang*, E. Hughes, K. Lascelles, M. A. Simpson, D. K. Pal

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)
164 Downloads (Pure)

Abstract

We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Early online date26 Sept 2016
DOIs
Publication statusE-pub ahead of print - 26 Sept 2016

Keywords

  • Myoclonic astatic epilepsy
  • Nicolaides-Baraitser syndrome
  • SMARCA2

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