Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches

Feigin VL, Vos T, Nair BS, Hay SI, Abate YH, Abd Al Magied AHA et al (2025) Global, regional, and national burden of epilepsy, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021. Lancet Public Health 10:e203–e227. https://doi.org/10.1016/S2468-2667(24)00302-5

Article  Google Scholar 

Kurisu A, Sugiyama A, Akita T, Takumi I, Yamamoto H, Iida K et al (2024) Incidence and prevalence of epilepsy in Japan: a retrospective analysis of insurance claims data of 9,864,278 insured persons. J Epidemiol 34:70–5. https://doi.org/10.2188/JEA.JE20220316

Article  PubMed  Google Scholar 

Safeer VSM, Sahu JK, Madaan P, Winter SF, Baker GA, Bansal D (2024) Estimating the active and lifetime prevalence and incidence of epilepsy in Asian Countries: a systematic review and meta-analysis. Epilepsy Behav 154:109739. https://doi.org/10.1016/J.YEBEH.2024.109739

Article  Google Scholar 

Wigglesworth S, Neligan A, Dickson JM, Pullen A, Yelland E, Anjuman T et al (2023) The incidence and prevalence of epilepsy in the United Kingdom 2013–2018: a retrospective cohort study of UK primary care data. Seizure: European Journal of Epilepsy 105:37–42. https://doi.org/10.1016/J.SEIZURE.2023.01.003

Article  CAS  PubMed  Google Scholar 

Beghi E (2020) The epidemiology of epilepsy. Neuroepidemiology 54:185–191. https://doi.org/10.1159/000503831

Article  PubMed  Google Scholar 

Wirrell EC, Specchio N, Nabbout R, Pearl PL, Riney K (2025) Epilepsy syndromes classification. Epilepsia Open 00:1–12. https://doi.org/10.1002/EPI4.70026

Article  Google Scholar 

Hunter MB, Yoong M, Sumpter RE, Verity K, Shetty J, McLellan A et al (2020) Incidence of early-onset epilepsy: a prospective population-based study. Seizure 75:49–54. https://doi.org/10.1016/j.seizure.2019.12.020

Article  PubMed  Google Scholar 

Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K et al (2022) ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE task force on nosology and definitions. Epilepsia 63:1349–97. https://doi.org/10.1111/EPI.17239

Article  PubMed  Google Scholar 

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P et al (2022) International league against epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE task force on nosology and definitions. Epilepsia 63:1398–442. https://doi.org/10.1111/EPI.17241

Article  PubMed  Google Scholar 

Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE et al (2022) International league against epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE task force on nosology and definitions. Epilepsia 63:1443–74. https://doi.org/10.1111/EPI.17240

Article  PubMed  Google Scholar 

Wirrell EC, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA et al (2022) Methodology for classification and definition of epilepsy syndromes with list of syndromes: report of the ILAE task force on nosology and definitions. Epilepsia 63:1333–48. https://doi.org/10.1111/EPI.17237

Article  PubMed  Google Scholar 

Myers CT, Mefford HC (2015) Advancing epilepsy genetics in the genomic era. Genome Med 7:1–11. https://doi.org/10.1186/S13073-015-0214-7/TABLES/1

Article  CAS  Google Scholar 

Kuzmanovski I, Cvetkovska E, Babunovska M, Kiteva Trencevska G, Kuzmanovska B, Boshkovski B et al (2016) Seizure outcome following medical treatment of mesial temporal lobe epilepsy: clinical phenotypes and prognostic factors. Clin Neurol Neurosurg 144:91–5. https://doi.org/10.1016/J.CLINEURO.2016.03.018

Article  PubMed  Google Scholar 

Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L et al (2017) ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia 58:512–21. https://doi.org/10.1111/EPI.13709

Article  PubMed  PubMed Central  Google Scholar 

Helbig I, Heinzen EL, Mefford HC, Berkovic SF, Lowenstein DH, Kato M (2016) Primer part 1—the building blocks of epilepsy genetics. Epilepsia 57:861–8. https://doi.org/10.1111/EPI.13381

Article  PubMed  Google Scholar 

Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C et al (2020) Genetic landscape of common epilepsies: advancing towards precision in treatment. Int J Mol Sci 21(20):7784. https://doi.org/10.3390/IJMS21207784

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G et al (2024) Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study. Int J Mol Sci 25:1248. https://doi.org/10.3390/IJMS25021248/S1

Article  CAS  PubMed  PubMed Central  Google Scholar 

Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I et al (2021) Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain 144:2879–91. https://doi.org/10.1093/BRAIN/AWAB162

Article  PubMed  PubMed Central  Google Scholar 

Rochtus A, Olson HE, Smith L, Keith LG, El Achkar C, Taylor A et al (2020) Genetic diagnoses in epilepsy: the impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61:249–58. https://doi.org/10.1111/EPI.16427

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen W, Qin J, Shen Y, Liang J, Cui Y, Zhang Y (2021) Next generation sequencing in children with unexplained epilepsy: a retrospective cohort study. Brain Dev 43:1004–1012. https://doi.org/10.1016/J.BRAINDEV.2021.05.014

Article  PubMed  Google Scholar 

Guerrini R, Balestrini S, Wirrell EC, Walker MC (2021) Monogenic epilepsies: disease mechanisms, clinical phenotypes, and targeted therapies. Neurology 97:817–31. https://doi.org/10.1212/WNL.0000000000012744

Article  PubMed  PubMed Central  Google Scholar 

Zhang MW, Liang XY, Wang J, Gao LD, Liao HJ, He YH et al (2024) Epilepsy-associated genes: an update. Seizure Eur J Epilepsy 116:4–13. https://doi.org/10.1016/J.SEIZURE.2023.09.021

Article  Google Scholar 

Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS et al (2017) Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource. Am J Hum Genet 100:895–906. https://doi.org/10.1016/j.ajhg.2017.04.015

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oliver KL, Scheffer IE, Bennett MF, Grinton BE, Bahlo M, Berkovic SF (2023) Genes4Epilepsy: an epilepsy gene resource. Epilepsia 64:1368–1375. https://doi.org/10.1111/EPI.17547

Article  PubMed  PubMed Central  Google Scholar 

Gracie L, Rostami-Hochaghan D, Taweel B, Mirza N, Agbabiaka AA, Ahmed A (2022) The seizure-associated genes across species (SAGAS) database offers insights into epilepsy genes, pathways and treatments. Epilepsia 63:2403–12. https://doi.org/10.1111/EPI.17352

Article  CAS  PubMed  PubMed Central  Google Scholar 

ClinGen Expert Panel Curations (2025) n.d. https://search.clinicalgenome.org/kb/affiliate/10005?page=1&size=250&search=&sort=classificationℴ=asc

Chi W, Kiskinis E (2024) Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations. Sci Rep 14:1–11. https://doi.org/10.1038/S41598-024-53494-2;SUBJMETA

Article  Google Scholar 

Dyment DA, Prasad AN, Boycott KM, Ediae GU, Hartley T, Hassan A et al (2020) Implementation of epilepsy multigene panel testing in Ontario, Canada. Can J Neurol Sci 47:61–8. https://doi.org/10.1017/CJN.2019.304

Article  PubMed  Google Scholar 

Sharo AG, Zou Y, Adhikari AN, Brenner SE (2023) ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden. Genome Med. https://doi.org/10.1186/S13073-023-01199-Y

Article  PubMed  PubMed Central  Google Scholar 

Um JW, Ko J (2017) Neural glycosylphosphatidylinositol-anchored proteins in synaptic specification. Trends Cell Biol 27:931–945. https://doi.org/10.1016/J.TCB.2017.06.007/ASSET/4285E4EE-920B-4039-8793-5073A7383FE5/MAIN.ASSETS/MMC1.MP4

Article  CAS  PubMed 

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