Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy

Pathogenic variants in HCN1 are an established cause of developmental and epileptic encephalopathy (DEE). To date, the stratification of patients with HCN1-DEE based on the biophysical consequence on channel function of a given variant has not been possible. Here, we analysed data from eleven patien...

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Detalles Bibliográficos
Autores principales: McKenzie, Chaseley E, Forster, Ian C, Soh, Ming S, Phillips, A Marie, Bleakley, Lauren E, Russ-Hall, Sophie J, Myers, Kenneth A, Scheffer, Ingrid E, Reid, Christopher A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10231804/
https://www.ncbi.nlm.nih.gov/pubmed/37265603
http://dx.doi.org/10.1093/braincomms/fcad156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10231804/
https://www.ncbi.nlm.nih.gov/pubmed/37265603
http://dx.doi.org/10.1093/braincomms/fcad156

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