Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

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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Bibliographic Details
Main Authors: Kameryn M. Butler, Philip J. Holt, Sarah S. Milla, Cristina da Silva, John J. Alexander, Andrew Escayg
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2018/6308283
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