Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia

Mutations in the KCNA1 gene, encoding the voltage-gated potassium channel Kv1.1, have been associated with a spectrum of neurological phenotypes, including episodic ataxia type 1 and developmental and epileptic encephalopathy. We have recently identified a de novo variant in KCNA1 in the highly cons...

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Detalles Bibliográficos
Autores principales: Dinoi, Giorgia, Morin, Michael, Conte, Elena, Mor Shaked, Hagar, Coppola, Maria Antonietta, D’Adamo, Maria Cristina, Elpeleg, Orly, Liantonio, Antonella, Hartmann, Inbar, De Luca, Annamaria, Blunck, Rikard, Russo, Angelo, Imbrici, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9331732/
https://www.ncbi.nlm.nih.gov/pubmed/35897654
http://dx.doi.org/10.3390/ijms23158079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9331732/
https://www.ncbi.nlm.nih.gov/pubmed/35897654
http://dx.doi.org/10.3390/ijms23158079

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