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CACNA1H variants are not a cause of monogenic epilepsy.
CACNA1H genetic variants were originally reported in a childhood absence epilepsy cohort. Subsequently, genetic testing for CACNA1H became available and is currently offered by commercial laboratories. However, the current status of CACNA1H as a monogenic cause of epilepsy is controversial, highligh...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7301766/ https://ncbi.nlm.nih.gov/pubmed/32227660 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24017 |
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