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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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
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author 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
author_facet 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
author_sort Kobayashi, Yu
collection PubMed
description 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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spelling pubmed-102900892023-06-25 The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2023-06-23 /pmc/articles/PMC10290089/ /pubmed/37353494 http://dx.doi.org/10.1038/s41439-023-00247-8 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
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
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
title The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
title_full The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
title_fullStr The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
title_full_unstemmed The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
title_short The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus
title_sort hcn1 p.ser399pro variant causes epileptic encephalopathy with super-refractory status epilepticus
topic Data Report
url 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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