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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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Publicado en:Mol Genet Genomic Med
Autores principales: Gudenkauf, Franciska J., Azamian, Mahshid S., Hunter, Jill V., Nayak, Anuranjita, Lalani, Seema R.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Acceso en línea: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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