A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

Kv1.2 channels, encoded by the KCNA2 gene, are localized in the central and peripheral nervous system, where they regulate neuronal excitability. Recently, heterozygous mutations in KCNA2 have been associated with a spectrum of symptoms extending from epileptic encephalopathy, intellectual disabilit...

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Detalles Bibliográficos
Autores principales: Imbrici, Paola, Conte, Elena, Blunck, Rikard, Stregapede, Fabrizia, Liantonio, Antonella, Tosi, Michele, D’Adamo, Maria Cristina, De Luca, Annamaria, Brankovic, Vesna, Zanni, Ginevra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469797/
https://www.ncbi.nlm.nih.gov/pubmed/34576077
http://dx.doi.org/10.3390/ijms22189913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469797/
https://www.ncbi.nlm.nih.gov/pubmed/34576077
http://dx.doi.org/10.3390/ijms22189913

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