The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized epilepsy. We report a Japanese patient with repetitive foca...

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Detalles Bibliográficos
Autores principales: Kobayashi, Yu, Tohyama, Jun, Akasaka, Noriyuki, Yamada, Kei, Hojo, Moemi, Seki, Eijun, Miura, Masaki, Soma, Noriko, Ono, Takeshi, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290089/
https://www.ncbi.nlm.nih.gov/pubmed/37353494
http://dx.doi.org/10.1038/s41439-023-00247-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290089/
https://www.ncbi.nlm.nih.gov/pubmed/37353494
http://dx.doi.org/10.1038/s41439-023-00247-8

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