Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report

Variants in HCN1 are associated with a range of epilepsy syndromes including developmental and epileptic encephalopathies. Here we describe a child harboring a novel de novo HCN1 variant, E246A, in a child with epilepsy and mild developmental delay. By parental report, the child had difficulty in di...

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Detalles Bibliográficos
Autores principales: Mckenzie, Chaseley E., Ho, Chen-Jui, Forster, Ian C., Soh, Ming S., Phillips, A. Marie, Chang, Ying-Chao, Scheffer, Ingrid E., Reid, Christopher A., Tsai, Meng-Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960314/
https://www.ncbi.nlm.nih.gov/pubmed/35359652
http://dx.doi.org/10.3389/fneur.2022.834252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960314/
https://www.ncbi.nlm.nih.gov/pubmed/35359652
http://dx.doi.org/10.3389/fneur.2022.834252

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