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...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/6308283 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849404862006034432 |
|---|---|
| author | Kameryn M. Butler Philip J. Holt Sarah S. Milla Cristina da Silva John J. Alexander Andrew Escayg |
| author_facet | Kameryn M. Butler Philip J. Holt Sarah S. Milla Cristina da Silva John J. Alexander Andrew Escayg |
| author_sort | Kameryn M. Butler |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9a062dfc96f2460a9b5de96e2ffecbd6 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-9a062dfc96f2460a9b5de96e2ffecbd62025-08-20T03:36:52ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/63082836308283Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 VariantsKameryn M. Butler0Philip J. Holt1Sarah S. Milla2Cristina da Silva3John J. Alexander4Andrew Escayg5Emory University Department of Human Genetics, Atlanta, GA 30322, USAEmory University Department of Pediatrics, Division of Pediatric Neurology, Atlanta, GA 30322, USAEmory University Department of Radiology and Imaging Services, Atlanta, GA 30322, USAEGL Genetics, Tucker, GA, 30084, USAEmory University Department of Human Genetics, Atlanta, GA 30322, USAEmory University Department of Human Genetics, Atlanta, GA 30322, USACACNA2D2 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.http://dx.doi.org/10.1155/2018/6308283 |
| spellingShingle | Kameryn M. Butler Philip J. Holt Sarah S. Milla Cristina da Silva John J. Alexander Andrew Escayg Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants Case Reports in Genetics |
| title | Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants |
| title_full | Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants |
| title_fullStr | Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants |
| title_full_unstemmed | Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants |
| title_short | Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants |
| title_sort | epileptic encephalopathy and cerebellar atrophy resulting from compound heterozygous cacna2d2 variants |
| url | http://dx.doi.org/10.1155/2018/6308283 |
| work_keys_str_mv | AT kamerynmbutler epilepticencephalopathyandcerebellaratrophyresultingfromcompoundheterozygouscacna2d2variants AT philipjholt epilepticencephalopathyandcerebellaratrophyresultingfromcompoundheterozygouscacna2d2variants AT sarahsmilla epilepticencephalopathyandcerebellaratrophyresultingfromcompoundheterozygouscacna2d2variants AT cristinadasilva epilepticencephalopathyandcerebellaratrophyresultingfromcompoundheterozygouscacna2d2variants AT johnjalexander epilepticencephalopathyandcerebellaratrophyresultingfromcompoundheterozygouscacna2d2variants AT andrewescayg epilepticencephalopathyandcerebellaratrophyresultingfromcompoundheterozygouscacna2d2variants |