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Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using human recombinant Cav3.2 calcium channels in tsA...
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| 出版年: | Mol Brain |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6814130/ https://ncbi.nlm.nih.gov/pubmed/31651342 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-019-0509-5 |
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