Published in
Elsevier, Pediatric Neurology, 1(50), p. 112-114
DOI: 10.1016/j.pediatrneurol.2013.06.024
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Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy
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Johanna L. Schmidt,
Philip L. Pearl,
Miriam Bloom,
Bennett Lavenstein,
David Miller,
Sean M. Grimmond,
Ryan J. Taft
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Abstract
We present a male with early infantile epileptic encephalopathy (EIEE) and a leukoencephalopathy in whom whole exome family trio sequencing identified a heterozygous de novo mutation in KCNT1, a sodium gated potassium channel gene. Severely delayed myelination was anecdotally reported in previous cases with KCNT1 mutations. This case reinforces that KCNT1 sequencing should be included in an investigation of patients with severely delayed myelination and epilepsy.