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

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

Abstract 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 repeti...

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Bibliographic Details
Main Authors: Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Format: Article
Language:English
Published: Nature Publishing Group 2023-06-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-023-00247-8

Internet

https://doi.org/10.1038/s41439-023-00247-8

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