Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

OBJECTIVE: Voltage-gated sodium channel (Na(v))–encoding genes are among early-onset epileptic encephalopathies (EOEE) targets, suggesting that other genes encoding Na(v)–binding proteins, such as fibroblast growth factor homologous factors (FHFs), may also play roles in these disorders. METHODS: To...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Neurology
मुख्य लेखकों: Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, de Witte, Peter A.M., Van Esch, Hilde, Goldfarb, Mitchell, Buyse, Gunnar M.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Lippincott Williams & Wilkins 2016
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4898311/
https://ncbi.nlm.nih.gov/pubmed/27164707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002752
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