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Article

Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate

1 Dec 2016

Abstract excerpt

Abstract Kv7.2 and Kv7.3 subunits underlie the M-current, a neuronal K+current characterized by an absolute functional requirement for phosphatidylinositol 4,5-bisphosphate (PIP2). Kv7.2 gene mutations cause early-onset neonatal seizures with heterogeneous clinical outcomes, ranging from self-limiting benign familial neonatal seizures to severe early-onset epileptic encephalopathy (Kv7.2-EE). In this study, the...

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PMID: 27905566
DOI: 10.1038/srep38167

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