Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities

Muna A. Al Dhaibani, Ayman W. El-Hattab, Kathryn B. Holroyd, Jennifer Orthmann-Murphy, Valerie A. Larson, Khurram A. Siddiqui, Miklos Szolics, Nicoline Schiess

Research output: Contribution to journalArticlepeer-review

Abstract

We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.

Original languageEnglish (US)
Pages (from-to)1-5
Number of pages5
JournalJournal of Neurogenetics
DOIs
StateAccepted/In press - Nov 27 2017

Keywords

  • EAST syndrome
  • KCNJ10
  • Kir4.1
  • SeSAME syndrome

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience

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