Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

OBJECTIVE: Mutations in KCNC1 can cause severe neurological dysfunction, including intellectual disability, epilepsy, and ataxia. The Arg320His variant, which occurs in the voltage‐sensing domain of the channel, causes a highly penetrant and specific form of progressive myoclonus epilepsy with sever...

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Detalles Bibliográficos
Autores principales: Carpenter, Jenna C., Männikkö, Roope, Heffner, Catherine, Heneine, Jana, Sampedro‐Castañeda, Marisol, Lignani, Gabriele, Schorge, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436768/
https://www.ncbi.nlm.nih.gov/pubmed/33735526
http://dx.doi.org/10.1111/epi.16867

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436768/
https://www.ncbi.nlm.nih.gov/pubmed/33735526
http://dx.doi.org/10.1111/epi.16867

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