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

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 ca...

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Publicat a:Pediatr Neurol
Autors principals: Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M., Taft, Ryan J.
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303471/
https://ncbi.nlm.nih.gov/pubmed/24120652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2013.06.024
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