Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.
Saved in:
| 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 |
Be the first to leave a comment!
