Human Epilepsy Gene Discovery: The Next Decade

doi:10.1093/med/9780197549469.003.0041

Review

Human Epilepsy Gene Discovery: The Next Decade

Emily S. Bonkowski, Heather C. Mefford

Jeffrey L. Noebels¹, Massimo Avoli², Michael A. Rogawski³, Annamaria Vezzani⁴, Antonio V. Delgado-Escueta⁵

, editors.

In: Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 41.

Affiliations

Book Affiliations

¹ Cullen Chair in Neurogenetics and Professor of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine
² Professor of Neurology and Neurosurgury, McGill University
³ Distinguished Professor of Neurology and Pharmacology, University of California, Davis School of Medicine
⁴ Head of the Laboratory of Experimental Neurology, Instituto di Ricerche Farmacologiche Mario Negri IRCCS
⁵ Professor Emeritus, University of California, Los Angeles

PMID: 39637201
Bookshelf ID: NBK609845
DOI: 10.1093/med/9780197549469.003.0041

Free Books & Documents

Review

Human Epilepsy Gene Discovery: The Next Decade

Emily S. Bonkowski et al.

Free Books & Documents

In: Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 41.

Authors

Emily S. Bonkowski, Heather C. Mefford

Book Editors

Jeffrey L. Noebels¹, Massimo Avoli², Michael A. Rogawski³, Annamaria Vezzani⁴, Antonio V. Delgado-Escueta⁵

Book Affiliations

¹ Cullen Chair in Neurogenetics and Professor of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine
² Professor of Neurology and Neurosurgury, McGill University
³ Distinguished Professor of Neurology and Pharmacology, University of California, Davis School of Medicine
⁴ Head of the Laboratory of Experimental Neurology, Instituto di Ricerche Farmacologiche Mario Negri IRCCS
⁵ Professor Emeritus, University of California, Los Angeles

PMID: 39637201
Bookshelf ID: NBK609845
DOI: 10.1093/med/9780197549469.003.0041

Excerpt

The application of genome-wide technologies has accelerated the discovery of genetic and genomic etiologies for the epilepsies. Gene discovery has been most successful in the developmental and epileptic encephalopathies, and genetic testing is now routinely implemented in the clinical setting. Yet a significant percentage of affected individuals remain undiagnosed, and identifying the genetic underpinnings of generalized and focal epilepsies has lagged. Emerging technologies and analysis approaches offer promise for continued discovery of disease-associated variation. Examples include long-read sequencing, genome-wide methylation studies, and development and application of polygenic risk estimates.

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References

1. Acuna-Hidalgo R, Veltman JA, Hoischen A. 2016. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 17: 241. - PMC - PubMed
1. Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF et al. 2012. Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia 53: e204–207. - PubMed
1. Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S et al. 2019. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol 138: 885–900. - PMC - PubMed
1. Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C et al. 2018. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun 9: 2064. - PMC - PubMed
1. Berkovic SF, Howell RA, Hay DA, Hopper JL. 1998. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43: 435–445. - PubMed

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[1] Acuna-Hidalgo R, Veltman JA, Hoischen A. 2016. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 17: 241. - PMC - PubMed

[2] Acuna-Hidalgo R, Veltman JA, Hoischen A. 2016. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 17: 241. - PMC - PubMed

[3] Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF et al. 2012. Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia 53: e204–207. - PubMed

[4] Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF et al. 2012. Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia 53: e204–207. - PubMed

[5] Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S et al. 2019. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol 138: 885–900. - PMC - PubMed

[6] Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S et al. 2019. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol 138: 885–900. - PMC - PubMed

[7] Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C et al. 2018. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun 9: 2064. - PMC - PubMed

[8] Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C et al. 2018. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun 9: 2064. - PMC - PubMed

[9] Berkovic SF, Howell RA, Hay DA, Hopper JL. 1998. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43: 435–445. - PubMed

[10] Berkovic SF, Howell RA, Hay DA, Hopper JL. 1998. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43: 435–445. - PubMed

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Human Epilepsy Gene Discovery: The Next Decade

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Human Epilepsy Gene Discovery: The Next Decade

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