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Pediatric neurology · Jan 2014
Case ReportsIdentification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
- Adeline Vanderver, Cas Simons, Johanna L Schmidt, Philip L Pearl, Miriam Bloom, Bennett Lavenstein, David Miller, Sean M Grimmond, and Ryan J Taft.
- Department of Neurology, Children's National Medical Center, Washington, DC. Electronic address: avanderv@childrensnational.org.
- Pediatr. Neurol. 2014 Jan 1; 50 (1): 112-4.
BackgroundMore 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.PatientA child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing.ResultsWhole exome sequencing identified a heterozygous de novo mutation in KCNT1, a sodium-gated potassium channel gene.ConclusionsSeverely 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.Published by Elsevier Inc.
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