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A novel CACNA1A variant in a child with early stroke and intractable epilepsy
BACKGROUND: CACNA1A variants have been described in several disorders that encompass a wide range of neurologic phenotypes, including hemiplegic migraine, ataxia, cognitive delay, and epilepsy. To date, ischemic stroke caused by a CACNA1A variant has only been reported once in the literature. METHOD...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7549575/ https://ncbi.nlm.nih.gov/pubmed/32692472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1383 |
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