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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...
Autores principales: | Seiffert, Simone, Pendziwiat, Manuela, Hedrich, Ulrike B. S., Helbig, Ingo, Weber, Yvonne, Schwarz, Niklas |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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