KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

Recently, de novo variants in KCNC2, coding for the potassium channel subunit K(V)3.2, have been described as causative for various forms of epilepsy including genetic generalized epilepsy (GGE) and developmental and epileptic encephalopathy (DEE). Here, we report the functional characteristics of t...

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Detalles Bibliográficos
Autores principales: Seiffert, Simone, Pendziwiat, Manuela, Hedrich, Ulrike B. S., Helbig, Ingo, Weber, Yvonne, Schwarz, Niklas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10289024/
https://www.ncbi.nlm.nih.gov/pubmed/37360341
http://dx.doi.org/10.3389/fneur.2023.1212079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10289024/
https://www.ncbi.nlm.nih.gov/pubmed/37360341
http://dx.doi.org/10.3389/fneur.2023.1212079

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