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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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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6678645/ https://ncbi.nlm.nih.gov/pubmed/31295832 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20143382 |
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