Article
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
Pediatric neurology - 1 Jan 2014
Vanderver Adeline, Simons Cas, Schmidt Johanna L, Pearl Philip L, Bloom Miriam, Lavenstein Bennett, Miller David, Grimmond Sean M, Taft Ryan J
Abstract excerpt
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 chil...
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