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Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations

Background: Mutations in the CACNA1A gene have been associated phenotypically with Familial Hemiplegic Migraine Type 1, Episodic Ataxia Type 2, Idiopathic Generalized Epilepsy, and Developmental and Epileptic Encephalopathy 42. Only six cases have linked ischemic strokes to mutations in the CACNA1A...

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Detalles Bibliográficos
Autores principales: Bolte, Kristen N., Assaf, Melissa, Zach, Tamara, Peche, Shubhangi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052233/
https://www.ncbi.nlm.nih.gov/pubmed/35497372
http://dx.doi.org/10.1177/2329048X221094977