HCN1 p.Ser399Pro变体会导致癫痫性脑病和超难治性癫痫状态。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-06-23 DOI:10.1038/s41439-023-00247-8

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

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引用次数: 0

摘要

HCN1 是编码超极化激活环核苷酸门控通道的四个基因之一。与 HCN1 变异相关的表型范围包括新生儿发育性癫痫脑病和特发性全身性癫痫。我们报告了一名自婴儿期起就患有重复性局灶性癫痫发作和超难治性癫痫状态的日本患者，其病因是一个新的 HCN1 变异体 NM_021072.4，c.1195T>C, p.(Ser399Pro)。该变异可能会对通道功能产生显性负效应，从而导致严重的癫痫性脑病。

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

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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 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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks