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

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.

SUBMITTER: Vanderver A 

PROVIDER: S-EPMC4303471 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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

Vanderver Adeline A   Simons Cas C   Schmidt Johanna L JL   Pearl Philip L PL   Bloom Miriam M   Lavenstein Bennett B   Miller David D   Grimmond Sean M SM   Taft Ryan J RJ  

Pediatric neurology 20131010 1

<h4>Background</h4>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.<h4>Patient</h4>A child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing.<h4>Results</h4>Whole exome sequencing identified a heterozygous de novo mu  ...[more]

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