Grants per year
Personal profile
Research Interests
The primary aim of our research is to identify the genetic factors and biological mechanisms that cause epilepsy. We use a variety of sequencing technologies to identify new genetic causes in both the DNA regions that code for proteins (genes) and those that control the expression of these genes (regulatory regions). The second mission of our lab is to capitalize on the advances in gene discovery in epilepsy to create neuronal models of this disorder. Many of these 'epilepsy' genes are involved in the control of expression of other genes. In other words, they are responsible for switching certain genes ‘on’ or ‘off’ during the development and/or functioning of the brain. This switching is dependent on the 3D structure of DNA – called the epigenome. We use stem cell biology to create models of these ‘epigenetic’ genes to study how mutations affect the structure of the epigenome and the pathways affected. Identifying these pathways are the first step in finding new targets for therapeutics.
Training Experience
2016 | Postdoctoral Fellowship, University of Washington |
Education/Academic qualification
PhD, University of Cape Town
… → 2010
Research interests
- Epigenetics
- Epilepsy
- Gene Regulation
- Genetics
- Neurogenetics
- Stem Cells
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Grants
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Multiplatform Variant Prediction (MVP) in Epilepsy
University of Michigan, National Institute of Neurological Disorders and Stroke
9/15/20 → 7/31/25
Project: Research project
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Pathogenic Mechanisms Associated with a CUX2 Missense Variant in Epilepsy
Awatramani, R. & Carvill, G. L.
7/1/20 → 6/30/21
Project: Research project
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Cardiac Mechanisms of Sudden Unexpected Death in Epilepsy
University of Michigan, National Heart, Lung, and Blood Institute
7/1/20 → 6/30/24
Project: Research project
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Orthogonal Ubiquitin Transfer to Profile E3 Substrate Specificity
Georgia State University, National Institute of General Medical Sciences
7/1/19 → 6/30/21
Project: Research project
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Pathogenic splicing mechanisms of an SCN1A poison exon in Dravet syndrome
Dravet Syndrome Foundation, Inc.
1/1/19 → 12/31/20
Project: Research project
Research Output
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A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies
Happ, H. C. & Carvill, G. L., Mar 1 2020, In: Epilepsy Currents. 20, 2, p. 90-96 7 p.Research output: Contribution to journal › Review article › peer-review
Open Access6 Scopus citations -
CACNA1H variants are not a cause of monogenic epilepsy
Calhoun, J. D., Huffman, A. M., Bellinski, I., Kinsley, L., Bachman, E., Gerard, E., Kearney, J. A. & Carvill, G. L., Jun 1 2020, In: Human mutation. 41, 6, p. 1138-1144 7 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M. & 25 others, , Jul 1 2020, In: Human mutation. 41, 7, p. 1263-1279 17 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force
Kobow, K., Reid, C. A., van Vliet, E. A., Becker, A. J., Carvill, G. L., Goldman, A. M., Hirose, S., Lopes-Cendes, I., Khiari, H. M., Poduri, A., Johnson, M. R. & Henshall, D. C., Apr 1 2020, In: Epileptic Disorders. 22, 2, p. 127-141 15 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Epilepsy Genetics: What Once Was Rare, Is Now Common
Calhoun, J. D. & Carvill, G. L., Jul 1 2020, In: Epilepsy Currents. 20, 4, p. 221-223 3 p.Research output: Contribution to journal › Article › peer-review
Open Access