Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

CACNA2D2 encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to CACNA2D2 mutations. In both reports, patients were homozygous for the identified variants. Here, we report a p...

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Detalles Bibliográficos
Autores principales: Butler, Kameryn M., Holt, Philip J., Milla, Sarah S., da Silva, Cristina, Alexander, John J., Escayg, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205307/
https://www.ncbi.nlm.nih.gov/pubmed/30410802
http://dx.doi.org/10.1155/2018/6308283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205307/
https://www.ncbi.nlm.nih.gov/pubmed/30410802
http://dx.doi.org/10.1155/2018/6308283

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