A KCNC1‐related neurological disorder due to gain of Kv3.1 function

OBJECTIVE: To further clarify genotype:phenotype correlations associated with variants in KCNC1 encoding the voltage‐gated potassium (K+) channel subunit Kv3.1 and which are an emerging cause of a spectrum of neurological disease including intellectual disability, isolated myoclonus, progressive myo...

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Detalles Bibliográficos
Autores principales: Clatot, Jerome, Ginn, Natalie, Costain, Gregory, Goldberg, Ethan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852383/
https://www.ncbi.nlm.nih.gov/pubmed/36419348
http://dx.doi.org/10.1002/acn3.51707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852383/
https://www.ncbi.nlm.nih.gov/pubmed/36419348
http://dx.doi.org/10.1002/acn3.51707

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