Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S(2) Transmembrane Segment: Clinical, Genetic, and Functional Features

Kv7.2 subunits encoded by the KCNQ2 gene provide a major contribution to the M-current (I(KM)), a voltage-gated K(+) current crucially involved in the regulation of neuronal excitability. Heterozygous missense variants in Kv7.2 are responsible for epileptic diseases characterized by highly heterogen...

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Detalles Bibliográficos
Autores principales: Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Miceli, Francesco, Franco, Cristina, Canzoniero, Lorella Maria Teresa, Kline-Fath, Beth, Cooper, Edward C., Venkatesan, Charu, Taglialatela, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678645/
https://www.ncbi.nlm.nih.gov/pubmed/31295832
http://dx.doi.org/10.3390/ijms20143382

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