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Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants
Joint Authors
Butler, Kameryn M.
Holt, Philip J.
Milla, Sarah S.
da Silva, Cristina
Alexander, John J.
Escayg, Andrew
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-10-15
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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 patient with epileptic encephalopathy and cerebellar atrophy who was found to have two novel variants in the CACNA2D2 gene: c.782C>T (p.Pro261Leu) and c.3137T>C (p.Leu1046Pro), by whole-exome sequencing.
The variants were shown to be inherited in trans and the unaffected parents were confirmed to be heterozygous carriers.
This is the third report of recessive CACNA2D2 variants associated with disease and the first report of compound heterozygous variants.
The clinical description of this new case highlights the phenotypic similarities amongst individuals with CACNA2D2-related disease and suggests that CACNA2D2 should be considered as a differential diagnosis in individuals with cerebellar dysfunction and multiple seizure types that begin in the first year of life.
American Psychological Association (APA)
Butler, Kameryn M.& Holt, Philip J.& Milla, Sarah S.& da Silva, Cristina& Alexander, John J.& Escayg, Andrew. 2018. Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1143319
Modern Language Association (MLA)
Butler, Kameryn M.…[et al.]. Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants. Case Reports in Genetics No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1143319
American Medical Association (AMA)
Butler, Kameryn M.& Holt, Philip J.& Milla, Sarah S.& da Silva, Cristina& Alexander, John J.& Escayg, Andrew. Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1143319
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143319