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A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures
Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated potassium channel, K(V)2.1, are linked to developmental and epileptic encephalopathies and associated with loss-of-function, -regulation, and -expression of the channel. Here we describe a novel de novo variant (P17T)...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9810754/ https://www.ncbi.nlm.nih.gov/pubmed/36618935 http://dx.doi.org/10.3389/fphar.2022.1093313 |