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Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.

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Title: Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.
Authors: Matsumoto A; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Kasuya G; Division of Integrative Physiology, Department of Physiology, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Tumurbaatar S; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Masuda T; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Wakabayashi K; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Kawada M; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Higashikuni Y; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.; Department of Cardiovascular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Muramatsu K; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Nakajo K; Division of Integrative Physiology, Department of Physiology, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Osaka H; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan., Matsumura T; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan. matsut@jichi.ac.jp.; Department of Cardiovascular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan. matsut@jichi.ac.jp.
Source: Journal of human genetics [J Hum Genet] 2026 May; Vol. 71 (5), pp. 255-263. Date of Electronic Publication: 2025 Nov 22.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.
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  Data: <searchLink fieldCode="AU" term="%22Matsumoto+A%22">Matsumoto A</searchLink>; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Kasuya+G%22">Kasuya G</searchLink>; Division of Integrative Physiology, Department of Physiology, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Tumurbaatar+S%22">Tumurbaatar S</searchLink>; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Masuda+T%22">Masuda T</searchLink>; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Wakabayashi+K%22">Wakabayashi K</searchLink>; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Kawada+M%22">Kawada M</searchLink>; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Higashikuni+Y%22">Higashikuni Y</searchLink>; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.; Department of Cardiovascular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Muramatsu+K%22">Muramatsu K</searchLink>; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Nakajo+K%22">Nakajo K</searchLink>; Division of Integrative Physiology, Department of Physiology, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Osaka+H%22">Osaka H</searchLink>; Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan.<br /><searchLink fieldCode="AU" term="%22Matsumura+T%22">Matsumura T</searchLink>; Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan. matsut@jichi.ac.jp.; Department of Cardiovascular Medicine, Jichi Medical University, Shimotsuke-shi, Tochigi, Japan. matsut@jichi.ac.jp.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 May; Vol. 71 (5), pp. 255-263. <i>Date of Electronic Publication: </i>2025 Nov 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 May
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