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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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| Опубликовано в: : | Pediatr Neurol |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2013
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| Предметы: | |
| Online-ссылка: | 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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