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Pediatr Neurol. 2014 Jan;50(1):112-4. doi: 10.1016/j.pediatrneurol.2013.06.024. Epub 2013 Oct 10.

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.

Author information

1
Department of Neurology, Children's National Medical Center, Washington, DC. Electronic address: avanderv@childrensnational.org.
2
Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
3
Department of Neurology, Children's National Medical Center, Washington, DC.
4
Department of Pediatrics, Children's National Medical Center, Washington, DC.
5
Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
6
Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia. Electronic address: r.taft@uq.edu.au.

Abstract

BACKGROUND:

More than half of patients with genetic leukoencephalopathies remain without a specific diagnosis; this is particularly true in individuals with a likely primary neuronal etiology, such as those in which abnormal white matter occurs in combination with severe epilepsy.

PATIENT:

A child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing.

RESULTS:

Whole exome sequencing identified a heterozygous de novo mutation in KCNT1, a sodium-gated potassium channel gene.

CONCLUSIONS:

Severely delayed myelination was anecdotally reported in previous patients with KCNT1 mutations. This case reinforces that KCNT1 sequencing should be included in an investigation of patients with severely delayed myelination and epilepsy.

KEYWORDS:

KCNT1; delayed myelination; leukoencephalopathy; myoclonic

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