The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus-Reference-Cited by-同舟云学术

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

Published:2023-06-23 Issue:1 Volume:10 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Kobayashi Yu,Tohyama Jun,Akasaka Noriyuki,Yamada Kei,Hojo Moemi,Seki Eijun,Miura Masaki,Soma Noriko,Ono Takeshi,Kato Mitsuhiro,Nakashima Mitsuko^ORCID,Saitsu Hirotomo^ORCID,Matsumoto Naomichi

Abstract

AbstractHCN1 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 focal seizures and super-refractory status epilepticus since early infancy caused by a de novo HCN1 variant, NM_021072.4, c.1195T>C, p.(Ser399Pro). This variant might have a dominant-negative effect on channel function, leading to severe epileptic encephalopathy.

Funder

the Japan Society for the Promotion of Science (JSPS) KAKENHI Grant-in-Aid for Scientific Research The Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-023-00247-8.pdf

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