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

Case Reports in Genetics

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

Biology

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