{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T21:09:36Z","timestamp":1778620176694,"version":"3.51.4"},"reference-count":162,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","epilepsybehavior.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy &amp; Behavior"],"published-print":{"date-parts":[[2025,10]]},"DOI":"10.1016\/j.yebeh.2025.110575","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T06:46:07Z","timestamp":1753339567000},"page":"110575","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Genetic Epilepsies: Clinical pearls for early career epileptologists"],"prefix":"10.1016","volume":"171","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0953-2698","authenticated-orcid":false,"given":"Danielle M.","family":"Andrade","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0236-4361","authenticated-orcid":false,"given":"Victor S.T.","family":"Lira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farah","family":"Qaiser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quratulain","family":"Zulfiqar Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kette","family":"Valente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lysa Boiss\u00e9","family":"Lomax","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0085","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/ana.410430405","article-title":"Epilepsies in twins: Genetics of the major epilepsy syndromes","volume":"43","author":"Berkovic","year":"1998","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0590","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1093\/brain\/awt368","article-title":"Familial risk of epilepsy: A population-based study","volume":"137","author":"Peljto","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.yebeh.2025.110575_b0800","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.seizure.2023.09.021","article-title":"Epilepsy-associated genes: an update","volume":"116","author":"Zhang","year":"2024","journal-title":"Seizure"},{"key":"10.1016\/j.yebeh.2025.110575_b0440","doi-asserted-by":"crossref","unstructured":"Macdonald-Laurs, E., Leventer, R. J., & ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce**. (2024). ILAE genetic literacy series: Focal cortical dysplasia. Epileptic Disorders\u00a0: International Epilepsy Journal with Videotape. doi:10.1002\/epd2.20308.","DOI":"10.1002\/epd2.20308"},{"key":"10.1016\/j.yebeh.2025.110575_b0185","article-title":"Brain somatic mosaicism in epilepsy: Bringing results back to the clinic","volume":"181","author":"D\u2019Gama","year":"2023","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.yebeh.2025.110575_b0620","doi-asserted-by":"crossref","DOI":"10.1007\/s11910-020-01059-x","article-title":"Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies","volume":"20","author":"Qaiser","year":"2020","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.yebeh.2025.110575_b0155","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/nrm2854","article-title":"Repeat instability as the basis for human diseases and as a potential target for therapy","volume":"11","author":"Castel","year":"2010","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"8","key":"10.1016\/j.yebeh.2025.110575_b0165","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.1093\/brain\/awy160","article-title":"Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1","volume":"141","author":"Cen","year":"2018","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0270","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-019-12763-9","article-title":"Unstable TTTTA\/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3","volume":"10","author":"Florian","year":"2019","journal-title":"Nat Commun"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0345","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/s41588-018-0067-2","article-title":"Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy","volume":"50","author":"Ishiura","year":"2018","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.yebeh.2025.110575_b0795","doi-asserted-by":"crossref","first-page":"3360","DOI":"10.1093\/brain\/awz267","article-title":"TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4","volume":"142","author":"Yeetong","year":"2019","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0615","doi-asserted-by":"crossref","DOI":"10.1093\/braincomms\/fcab207","article-title":"Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox\u2013Gastaut syndrome","volume":"3","author":"Qaiser","year":"2021","journal-title":"Brain Commun"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0325","doi-asserted-by":"crossref","first-page":"6277","DOI":"10.1038\/s41467-024-50295-z","article-title":"Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events","volume":"15","author":"Heyne","year":"2024","journal-title":"Nat Commun"},{"issue":"9","key":"10.1016\/j.yebeh.2025.110575_b0715","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1038\/s41588-023-01485-w","article-title":"GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture","volume":"55","author":"Stevelink","year":"2023","journal-title":"Nat Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0670","doi-asserted-by":"crossref","unstructured":"Samanta, D. (2021, January 1). Epilepsy in Angelman syndrome: A scoping review. Brain and Development, Vol. 43, pp. 32\u201344. Elsevier B.V. doi:10.1016\/j.braindev.2020.08.014.","DOI":"10.1016\/j.braindev.2020.08.014"},{"key":"10.1016\/j.yebeh.2025.110575_b0445","unstructured":"Madaan, M., & Mendez, M. D. (2024). Angelman Syndrome. In StatPearls. Retrieved from http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18754889."},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0300","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.575","article-title":"Analysis of the Prader\u2013Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing","volume":"7","author":"Hartin","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0420","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1111\/epi.14074","article-title":"Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders","volume":"59","author":"Lindy","year":"2018","journal-title":"Epilepsia"},{"issue":"11","key":"10.1016\/j.yebeh.2025.110575_b0105","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1001\/jamaneurol.2017.1775","article-title":"Prevalence of pathogenic copy number variation in adults with pediatric-onset epilepsy and intellectual disability","volume":"74","author":"Borlot","year":"2017","journal-title":"JAMA Neurol"},{"issue":"8","key":"10.1016\/j.yebeh.2025.110575_b0100","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1111\/epi.16273","article-title":"Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability","volume":"60","author":"Borlot","year":"2019","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2025.110575_b0160","doi-asserted-by":"crossref","DOI":"10.1002\/epi4.13039","article-title":"Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach","author":"Castellotti","year":"2024","journal-title":"Epilepsia Open"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0465","article-title":"Multigene Panel Testing in a Large Cohort of Adults with Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. Neurology","volume":"8","author":"McKnight","year":"2022","journal-title":"Genetics"},{"issue":"12","key":"10.1016\/j.yebeh.2025.110575_b0470","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1001\/jamaneurol.2022.3651","article-title":"Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice","volume":"79","author":"McKnight","year":"2022","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0010","article-title":"Exome sequencing in Nigerian children with early-onset epilepsy syndromes","author":"Ademuwagun","year":"2024","journal-title":"Epilepsia Open"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0790","doi-asserted-by":"crossref","DOI":"10.1186\/s12887-024-05245-5","article-title":"Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing","volume":"24","author":"Xu","year":"2024","journal-title":"BMC Pediatr"},{"key":"10.1016\/j.yebeh.2025.110575_b0190","doi-asserted-by":"crossref","DOI":"10.1001\/jamaneurol.2024.3582","article-title":"Genome Sequencing After Exome Sequencing in Pediatric Epilepsy","author":"D\u2019Gama","year":"2024","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0195","doi-asserted-by":"crossref","unstructured":"D\u2019Gama, A. M., Shao, W., Smith, L., Koh, H. Y., Davis, M., Koh, J., \u2026 Poduri, A. (2024b, August 9). Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy. doi:10.1101\/2024.08.08.24307445.","DOI":"10.1101\/2024.08.08.24307445"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0395","doi-asserted-by":"crossref","first-page":"6524","DOI":"10.1038\/s41467-024-50159-6","article-title":"Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement","volume":"15","author":"LaFlamme","year":"2024","journal-title":"Nat Commun"},{"key":"10.1016\/j.yebeh.2025.110575_b0295","doi-asserted-by":"crossref","unstructured":"Habela, C. W., Schatz, K., & Kelley, S. A. (2024). Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research. Epilepsy Currents. SAGE Publications Ltd. doi:10.1177\/15357597241232881.","DOI":"10.1177\/15357597241232881"},{"key":"10.1016\/j.yebeh.2025.110575_b0350","doi-asserted-by":"crossref","unstructured":"Jain, P., Andrade, D., Donner, E., Dyment, D., Prasad, A. N., Goobie, S., \u2026 Snead, O. C. (2019, January 1). Development of criteria for epilepsy genetic testing in Ontario, Canada. Canadian Journal of Neurological Sciences, Vol. 46, pp. 7\u201313. Cambridge University Press. doi:10.1017\/cjn.2018.341.","DOI":"10.1017\/cjn.2018.341"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0390","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1684\/epd.2022.1448","article-title":"Current practice in diagnostic genetic testing of the epilepsies","volume":"24","author":"Krey","year":"2022","journal-title":"Epileptic Disord"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0310","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1111\/epi.14193","article-title":"Genetic literacy series: Primer part 2\u2014Paradigm shifts in epilepsy genetics","volume":"59","author":"Helbig","year":"2018","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0315","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/epi.13381","article-title":"Primer Part 1 - The building blocks of epilepsy genetics","volume":"57","author":"Helbig","year":"2016","journal-title":"Epilepsia"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0645","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"12","key":"10.1016\/j.yebeh.2025.110575_b0630","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100947","article-title":"Medical Genome Initiative Steering Committee. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change","volume":"25","author":"Rehm","year":"2023","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0335","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.yebeh.2025.110575_b0515","doi-asserted-by":"crossref","first-page":"3655","DOI":"10.1111\/epi.18155","article-title":"Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants","volume":"65","author":"Montanucci","year":"2024","journal-title":"Epilepsia"},{"issue":"12","key":"10.1016\/j.yebeh.2025.110575_b0585","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"ClinGen Sequence Variant Interpretation Working Group. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria","volume":"109","author":"Pejaver","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0680","article-title":"Developmental and epileptic encephalopathies","volume":"10","author":"Scheffer","year":"2024","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.yebeh.2025.110575_b0230","unstructured":"DRAVET, C. (1978). Les epilepsies graves de l\u2019enfant. La Vie Medicale, 8, 543\u2013548. Retrieved from https:\/\/cir.nii.ac.jp\/crid\/1571417125476794368.bib?lang=en."},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0570","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/epi4.12281","article-title":"Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype","volume":"4","author":"Ouss","year":"2019","journal-title":"Epilepsia Open"},{"issue":"7","key":"10.1016\/j.yebeh.2025.110575_b0780","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1111\/epi.17274","article-title":"International consensus on diagnosis and management of Dravet syndrome","volume":"63","author":"Wirrell","year":"2022","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0810","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1111\/epi.17239","article-title":"ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions","volume":"63","author":"Zuberi","year":"2022","journal-title":"Epilepsia"},{"issue":"24","key":"10.1016\/j.yebeh.2025.110575_b0255","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1212\/WNL.0000000000000521","article-title":"Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome","volume":"82","author":"Fasano","year":"2014","journal-title":"Neurology"},{"issue":"22","key":"10.1016\/j.yebeh.2025.110575_b0690","doi-asserted-by":"crossref","first-page":"E2204","DOI":"10.1212\/WNL.0000000000200341","article-title":"Progressive Worsening of Gait and Motor Abnormalities in Older Adults With Dravet Syndrome","volume":"98","author":"Selvarajah","year":"2022","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2025.110575_b0695","doi-asserted-by":"crossref","unstructured":"Selvarajah, A., Zulfiqar-Ali, Q., Marques, P., Rong, M., & Andrade, D. M. (2021, April 1). A systematic review of adults with Dravet syndrome. Seizure, Vol. 87, pp. 39\u201345. W.B. Saunders Ltd. doi:10.1016\/j.seizure.2021.02.025.","DOI":"10.1016\/j.seizure.2021.02.025"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0730","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1111\/epi.17888","article-title":"Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three-dimensional gait analysis","volume":"65","author":"Suzuki","year":"2024","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2025.110575_b0235","doi-asserted-by":"crossref","unstructured":"El Mouhi, H., Abbassi, M., Jalte, M., Natiq, A., Bouguenouch, L., & Chaouki, S. (2024, April 1). The Genetic Facets of Dravet Syndrome: Recent Insights. Annals of Child Neurology, Vol. 32, pp. 67\u201382. Korean Child Neurology Society. doi:10.26815\/acn.2023.00367.","DOI":"10.26815\/acn.2023.00367"},{"key":"10.1016\/j.yebeh.2025.110575_b0280","doi-asserted-by":"crossref","unstructured":"Gao, C., Pielas, M., Jiao, F., Mei, D., Wang, X., Kotulska, K., & Jozwiak, S. (2023, April 1). Epilepsy in Dravet Syndrome\u2014Current and Future Therapeutic Opportunities. Journal of Clinical Medicine, Vol. 12. Multidisciplinary Digital Publishing Institute (MDPI). doi:10.3390\/jcm12072532.","DOI":"10.3390\/jcm12072532"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0245","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/74159","article-title":"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2","volume":"24","author":"Escayg","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0200","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.yebeh.2018.09.041","article-title":"Outcomes and comorbidities of SCN1A-related seizure disorders","volume":"90","author":"de Lange","year":"2019","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2025.110575_b0425","unstructured":"Lira, V. & Zulfiqar Ali, Q. (2025). Clinical Phenotypes based on Loss of Function (LoF) vs Gain of Function (GoF) SCN1A variants. Created in BioRender. https:\/\/BioRender.com\/w6zquz9."},{"issue":"11","key":"10.1016\/j.yebeh.2025.110575_b0125","doi-asserted-by":"crossref","first-page":"3816","DOI":"10.1093\/brain\/awac210","article-title":"The gain of function SCN1A disorder spectrum: Novel epilepsy phenotypes and therapeutic implications","volume":"145","author":"Brunklaus","year":"2022","journal-title":"Brain"},{"issue":"14","key":"10.1016\/j.yebeh.2025.110575_b0150","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1212\/WNL.0000000000000291","article-title":"GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome","volume":"82","author":"Carvill","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2025.110575_b0650","unstructured":"Rong, M., Andrade, D., et al., (2024, December 6-10). Variants in ATP6V0C Causes a Dravet-like Developmental and Epileptic Encephalopathy [Conference presentation abstract]. 2024 American Epilepsy Society annual meeting, Los Angeles, CA, United States. https:\/\/www.aesnet.org\/abstractslisting\/variants-in-atp6v0c-causes-a-dravet-like-developmental-and-epileptic-encephalopathy."},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0765","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/epi.14678","article-title":"Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy","volume":"60","author":"Vlaskamp","year":"2019","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0655","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200105","article-title":"Adult Phenotype of SYNGAP1 -DEE","volume":"9","author":"Rong","year":"2023","journal-title":"Neurol Genet"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0660","article-title":"Adult Phenotype of CHD2 -Associated Disorders. Neurology","volume":"10","author":"Rong","year":"2024","journal-title":"Genetics"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0210","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/nrg3687","article-title":"X chromosome regulation: diverse patterns in development, tissues and disease","volume":"15","author":"Deng","year":"2014","journal-title":"Nat Rev Genet"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0455","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200233","article-title":"Women With Genetic Epilepsies","volume":"11","author":"Marques","year":"2025","journal-title":"Neurol Genet."},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0565","doi-asserted-by":"crossref","DOI":"10.1002\/brb3.1250","article-title":"Epilepsy and genetic in Rett syndrome: A review","volume":"9","author":"Operto","year":"2019","journal-title":"Brain Behav"},{"issue":"8","key":"10.1016\/j.yebeh.2025.110575_b0205","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1111\/epi.16285","article-title":"CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development","volume":"60","author":"Demarest","year":"2019","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2025.110575_b0015","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.874695","article-title":"International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder","volume":"13","author":"Amin","year":"2022","journal-title":"Front Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0665","doi-asserted-by":"crossref","unstructured":"Samanta, D. (2020, April 1). PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review. Pediatric Neurology, Vol. 105, pp. 3\u20139. Elsevier Inc. doi:10.1016\/j.pediatrneurol.2019.10.009.","DOI":"10.1016\/j.pediatrneurol.2019.10.009"},{"key":"10.1016\/j.yebeh.2025.110575_b0140","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.yebeh.2014.10.019","article-title":"Cognitive development in females with PCDH19 gene-related epilepsy","volume":"42","author":"Cappelletti","year":"2015","journal-title":"Epilepsy Behav"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0225","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.149","article-title":"X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment","volume":"40","author":"Dibbens","year":"2008","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0215","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000381","article-title":"Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles dravet syndrome but mainly affects females","volume":"5","author":"Depienne","year":"2009","journal-title":"PLoS Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0385","doi-asserted-by":"crossref","unstructured":"Kolc, K. L., Sadleir, L. G., Scheffer, I. E., Ivancevic, A., Roberts, R., Pham, D. H., & Gecz, J. (2019, February 1). A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Molecular Psychiatry, Vol. 24, pp. 241\u2013251. Nature Publishing Group. doi:10.1038\/s41380-018-0066-9.","DOI":"10.1038\/s41380-018-0066-9"},{"key":"10.1016\/j.yebeh.2025.110575_b0360","article-title":"Behavioral and neuropsychological profile of a male patient with mosaic PCDH19 mutation","volume":"19","author":"Johannessen","year":"2022","journal-title":"Epilepsy Behav Rep"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0735","doi-asserted-by":"crossref","DOI":"10.1111\/epi.13295","article-title":"PCDH19 \u2010related epilepsy in two mosaic male patients","volume":"57","author":"Terracciano","year":"2016","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0740","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1002\/ajmg.a.37617","article-title":"PCDH19 \u2010related epileptic encephalopathy in a male mosaic for a truncating variant","volume":"170","author":"Thiffault","year":"2016","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.yebeh.2025.110575_b0580","doi-asserted-by":"crossref","unstructured":"Parrini, E., Conti, V., Dobyns, W. B., & Guerrini, R. (2016, September 1). Genetic basis of brain malformations. Molecular Syndromology, Vol. 7, pp. 220\u2013233. S. Karger AG. doi:10.1159\/000448639.","DOI":"10.1159\/000448639"},{"issue":"8","key":"10.1016\/j.yebeh.2025.110575_b0575","doi-asserted-by":"crossref","first-page":"3934","DOI":"10.1007\/s00415-023-11724-z","article-title":"The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia","volume":"270","author":"Paliotti","year":"2023","journal-title":"J Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0430","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.eplepsyres.2017.03.005","article-title":"Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations","volume":"133","author":"Liu","year":"2017","journal-title":"Epilepsy Res"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0635","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/ejhg.2012.209","article-title":"Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A","volume":"21","author":"Reinstein","year":"2013","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0135","doi-asserted-by":"crossref","DOI":"10.1186\/s12881-018-0655-0","article-title":"FLNA mutations in surviving males presenting with connective tissue findings: Two new case reports and review of the literature","volume":"19","author":"Cannaerts","year":"2018","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0290","doi-asserted-by":"crossref","unstructured":"Guerrini, R., & Dobyns, W. B. (2014). Malformations of cortical development: Clinical features and genetic causes. The Lancet Neurology, Vol. 13, pp. 710\u2013726. Lancet Publishing Group. doi:10.1016\/S1474-4422(14)70040-7.","DOI":"10.1016\/S1474-4422(14)70040-7"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0080","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1111\/bpa.12686","article-title":"Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery","volume":"29","author":"Benova","year":"2019","journal-title":"Brain Pathol"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0115","doi-asserted-by":"crossref","first-page":"10429","DOI":"10.1038\/s41467-024-54911-w","article-title":"Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR","volume":"15","author":"Bo\u00dfelmann","year":"2024","journal-title":"Nat Commun"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0120","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/nan.12696","article-title":"Neuropathology of genetically defined malformations of cortical development\u2014A systematic literature review","volume":"47","author":"Brock","year":"2021","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0435","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1093\/brain\/awac376","article-title":"The genomic landscape across 474 surgically accessible epileptogenic human brain lesions","volume":"146","author":"L\u00f3pez-Rivera","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.yebeh.2025.110575_b0450","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.gde.2011.01.006","article-title":"What disorders of cortical development tell us about the cortex: One plus one does not always make two","volume":"21","author":"Manzini","year":"2011","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.yebeh.2025.110575_b0640","doi-asserted-by":"crossref","unstructured":"Represa, A. (2019, March 29). Why Malformations of Cortical Development Cause Epilepsy. Frontiers in Neuroscience, Vol. 13. Frontiers Media S.A. doi:10.3389\/fnins.2019.00250.","DOI":"10.3389\/fnins.2019.00250"},{"key":"10.1016\/j.yebeh.2025.110575_b0710","doi-asserted-by":"crossref","unstructured":"Steinlein, O. K., Mulley2, J. C., Propping, P., Wallace, R. H., Phillips2, H. A., Sutherland, G. R., \u2026 Berkovic, S. F. (1995). A missense mutation in the neuronal nicotinic acetylcholine receptor a4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Retrieved from http:\/\/www.nature.com\/naturegenetics.","DOI":"10.1038\/ng1095-201"},{"issue":"11","key":"10.1016\/j.yebeh.2025.110575_b0320","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1038\/ng.2440","article-title":"Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy","volume":"44","author":"Heron","year":"2012","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0605","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1086\/316946","article-title":"CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy *","volume":"68","author":"Phillips","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0340","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.gene.2013.08.096","article-title":"A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy","volume":"531","author":"Ishii","year":"2013","journal-title":"Gene"},{"issue":"Pt 5","key":"10.1016\/j.yebeh.2025.110575_b0475","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1093\/brain\/awt073","article-title":"Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum","volume":"136","author":"McTague","year":"2013","journal-title":"Brain J Neurol"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0500","article-title":"Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurology","volume":"2","author":"M\u00f8ller","year":"2016","journal-title":"Genetics"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0770","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1111\/epi.13391","article-title":"Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia","volume":"57","author":"Weckhuysen","year":"2016","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2025.110575_b0110","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.seizure.2021.12.004","article-title":"Genetic testing before epilepsy surgery \u2013 An exploratory survey and case collection from German epilepsy centers","volume":"95","author":"Bo\u00dfelmann","year":"2022","journal-title":"Seizure"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0675","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/epi4.12366","article-title":"Implications of genetic diagnostics in epilepsy surgery candidates: A single-center cohort study","volume":"4","author":"Sanders","year":"2019","journal-title":"Epilepsia Open"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0060","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/s41436-018-0060-2","article-title":"The landscape of epilepsy-related GATOR1 variants","volume":"21","author":"Baldassari","year":"2019","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0065","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/s00401-019-02061-5","article-title":"Dissecting the genetic basis of focal cortical dysplasia: a large cohort study","volume":"138","author":"Baldassari","year":"2019","journal-title":"Acta Neuropathol"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0545","article-title":"Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation. Neurology","volume":"1","author":"Nascimento","year":"2015","journal-title":"Genetics"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0365","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng832","article-title":"Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features","volume":"30","author":"Kalachikov","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0095","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.seizure.2020.12.015","article-title":"Epilepsy with auditory features: Contribution of known genes in 112 patients","volume":"85","author":"Bisulli","year":"2021","journal-title":"Seizure"},{"key":"10.1016\/j.yebeh.2025.110575_b0485","unstructured":"Michelucci, R., Pasini, E., & Dazzo, E. (1993). Autosomal Dominant Epilepsy with Auditory Features. In GeneReviews\u00ae. Retrieved from http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16359475."},{"issue":"9","key":"10.1016\/j.yebeh.2025.110575_b0145","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/ng.2727","article-title":"GRIN2A mutations cause epilepsy-aphasia spectrum disorders","volume":"45","author":"Carvill","year":"2013","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.yebeh.2025.110575_b0405","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1038\/ng.2728","article-title":"Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes","volume":"45","author":"Lemke","year":"2013","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.yebeh.2025.110575_b0410","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/ng.2726","article-title":"GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction","volume":"45","author":"Lesca","year":"2013","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0705","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1111\/epi.17241","article-title":"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","volume":"63","author":"Specchio","year":"2022","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2025.110575_b0760","doi-asserted-by":"crossref","DOI":"10.1002\/ana.27041","article-title":"Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike\u2013Wave Activation in Sleep (D\/EE-SWAS)","author":"Viswanathan","year":"2024","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0720","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1093\/brain\/awy304","article-title":"GRIN2A -related disorders: Genotype and functional consequence predict phenotype","volume":"142","author":"Strehlow","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.yebeh.2025.110575_b0700","doi-asserted-by":"crossref","unstructured":"Severino, M., Geraldo, A. F., Utz, N., Tortora, D., Pogledic, I., Klonowski, W., \u2026 Rossi, A. (2020, October 1). Definitions and classification of malformations of cortical development: Practical guidelines. Brain, Vol. 143, pp. 2874\u20132894. Oxford University Press. doi:10.1093\/brain\/awaa174.","DOI":"10.1093\/brain\/awaa174"},{"key":"10.1016\/j.yebeh.2025.110575_b0180","doi-asserted-by":"crossref","unstructured":"D\u2019Gama, A. M., & Poduri, A. (2021, July 1). Precision Therapy for Epilepsy Related to Brain Malformations. Neurotherapeutics, Vol. 18, pp. 1548\u20131563. Springer Science and Business Media Deutschland GmbH. doi:10.1007\/s13311-021-01122-6.","DOI":"10.1007\/s13311-021-01122-6"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0560","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1111\/epi.17547","article-title":"Genes4Epilepsy: An epilepsy gene resource","volume":"64","author":"Oliver","year":"2023","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0595","doi-asserted-by":"crossref","first-page":"793","DOI":"10.3390\/brainsci11060793","article-title":"The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature","volume":"11","author":"Pepi","year":"2021","journal-title":"Brain Sci"},{"issue":"8","key":"10.1016\/j.yebeh.2025.110575_b0540","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1111\/epi.17301","article-title":"The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission","volume":"63","author":"Najm","year":"2022","journal-title":"Epilepsia"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0055","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.neurol.2022.12.007","article-title":"mTOR-therapy and targeted treatment opportunities in mTOR-related epilepsies associated with cortical malformations","volume":"179","author":"Auvin","year":"2023","journal-title":"Rev Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0040","doi-asserted-by":"crossref","DOI":"10.1016\/j.spen.2024.101155","article-title":"Tuberous sclerosis complex: Diagnostic features, surveillance, and therapeutic strategies","volume":"51","author":"Arredondo","year":"2024","journal-title":"Semin Pediatr Neurol"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0480","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1002\/ana.22645","article-title":"Rare copy number variants are an important cause of epileptic encephalopathies","volume":"70","author":"Mefford","year":"2011","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0750","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1111\/cge.13144","article-title":"Detection of copy number variations in epilepsy using exome data","volume":"93","author":"Tsuchida","year":"2018","journal-title":"Clin Genet"},{"issue":"7","key":"10.1016\/j.yebeh.2025.110575_b0550","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1093\/brain\/awaa171","article-title":"Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects","volume":"143","author":"Niestroj","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.yebeh.2025.110575_b0520","doi-asserted-by":"crossref","unstructured":"Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Br\u00fcnger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038\/s41467-023-39539-6.","DOI":"10.1038\/s41467-023-39539-6"},{"key":"10.1016\/j.yebeh.2025.110575_b0070","doi-asserted-by":"crossref","unstructured":"Bayat, M., & Bayat, A. (2022, March 1). Neurological manifestation of 22q11.2 deletion syndrome. Neurological Sciences, Vol. 43, pp. 1695\u20131700. Springer-Verlag Italia s.r.l. doi:10.1007\/s10072-021-05825-8.","DOI":"10.1007\/s10072-021-05825-8"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0785","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1111\/epi.13748","article-title":"22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy","volume":"58","author":"Wither","year":"2017","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0530","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1111\/epi.14042","article-title":"Genetic generalized epilepsies","volume":"59","author":"Mullen","year":"2018","journal-title":"Epilepsia"},{"issue":"6","key":"10.1016\/j.yebeh.2025.110575_b0330","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1111\/epi.17236","article-title":"ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions","volume":"63","author":"Hirsch","year":"2022","journal-title":"Epilepsia"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0005","article-title":"Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies","volume":"9","author":"Abou-Khalil","year":"2018","journal-title":"Nat Commun"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0525","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1212\/WNL.0b013e3181eb58b4","article-title":"Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency","volume":"75","author":"Mullen","year":"2010","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0380","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1684\/epd.2020.1143","article-title":"Epigenetics explained: a topic \u201cprimer\u201d for the epilepsy community by the ILAE Genetics\/Epigenetics Task Force","volume":"22","author":"Kobow","year":"2020","journal-title":"Epileptic Disord"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0725","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/ana.21724","article-title":"Early\u2010onset absence epilepsy caused by mutations in the glucose transporter GLUT1","volume":"66","author":"Suls","year":"2009","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0275","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/s10038-023-01208-3","article-title":"Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing","volume":"69","author":"Gamirova","year":"2024","journal-title":"J Hum Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0610","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.gde.2011.01.005","article-title":"Epilepsy genetics-past, present, and future","volume":"21","author":"Poduri","year":"2011","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.yebeh.2025.110575_b0625","doi-asserted-by":"crossref","unstructured":"Rastin, C., Schenkel, L. C., & Sadikovic, B. (2023, October 1). Complexity in Genetic Epilepsies: A Comprehensive Review. International Journal of Molecular Sciences, Vol. 24. Multidisciplinary Digital Publishing Institute (MDPI). doi:10.3390\/ijms241914606.","DOI":"10.3390\/ijms241914606"},{"issue":"12","key":"10.1016\/j.yebeh.2025.110575_b0460","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1016\/j.ajhg.2022.10.009","article-title":"Systematic comparison of family history and polygenic risk across 24 common diseases","volume":"109","author":"Mars","year":"2022","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0555","doi-asserted-by":"crossref","DOI":"10.1016\/j.ebiom.2022.104079","article-title":"Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery","volume":"81","author":"Oliver","year":"2022","journal-title":"EBioMedicine"},{"issue":"11","key":"10.1016\/j.yebeh.2025.110575_b0415","doi-asserted-by":"crossref","first-page":"3473","DOI":"10.1093\/brain\/awz292","article-title":"Polygenic burden in focal and generalized epilepsies","volume":"142","author":"Leu","year":"2019","journal-title":"Brain"},{"issue":"9","key":"10.1016\/j.yebeh.2025.110575_b0240","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1016\/j.ajhg.2024.07.014","article-title":"Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias","volume":"111","author":"Ellis","year":"2024","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0030","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1586\/14737175.7.6.727","article-title":"Genetics of epilepsies","volume":"7","author":"Andrade","year":"2007","journal-title":"Expert Rev Neurother"},{"key":"10.1016\/j.yebeh.2025.110575_b0130","doi-asserted-by":"crossref","unstructured":"Cameron, J. M., Ellis, C. A., & Berkovic, S. F. (2023, October 1). ILAE Genetics Literacy series: Progressive myoclonus epilepsies. Epileptic Disorders, Vol. 25, pp. 670\u2013680. John Wiley and Sons Inc. doi:10.1002\/epd2.20152.","DOI":"10.1002\/epd2.20152"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0400","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1038\/ng0397-298","article-title":"Unstable insertion in the 5\u2019 flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1","volume":"15","author":"Lafreni\u00e8re","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.yebeh.2025.110575_b0755","unstructured":"Virtaneva, K., Paulin, L., Krahe, R., de la Chapelle, A., & Lehesjoki, A. E. (1998). The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online. Human Mutation, 12(3), 218."},{"issue":"11","key":"10.1016\/j.yebeh.2025.110575_b0020","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1212\/01.WNL.0000096017.19978.CB","article-title":"Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls","volume":"61","author":"Andrade","year":"2003","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0170","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/ng1238","article-title":"Mutations in NHLRC1 cause progressive myoclonus epilepsy","volume":"35","author":"Chan","year":"2003","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0495","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/2470","article-title":"Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy","volume":"20","author":"Minassian","year":"1998","journal-title":"Nat Genet"},{"issue":"7","key":"10.1016\/j.yebeh.2025.110575_b0025","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1212\/01.WNL.0000156907.49247.05","article-title":"Nonepileptic visual hallucinations in Lafora disease","volume":"64","author":"Andrade","year":"2005","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0035","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.pediatrneurol.2012.05.004","article-title":"Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy","volume":"47","author":"Andrade","year":"2012","journal-title":"Pediatr Neurol"},{"issue":"5","key":"10.1016\/j.yebeh.2025.110575_b0050","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.ajhg.2011.04.004","article-title":"Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6","volume":"88","author":"Arsov","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0685","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/S1474-4422(23)00384-8","article-title":"Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study","volume":"23","author":"Schulz","year":"2024","journal-title":"Lancet"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0775","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1212\/WNL.0b013e31825f0547","article-title":"New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses","volume":"79","author":"Williams","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2025.110575_b0260","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.pediatrneurol.2017.12.005","article-title":"MERRF Classification: Implications for Diagnosis and Clinical Trials","volume":"80","author":"Finsterer","year":"2018","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0175","doi-asserted-by":"crossref","DOI":"10.1002\/epi4.70039","article-title":"Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes","author":"Coppola","year":"2025","journal-title":"Epilepsia Open"},{"key":"10.1016\/j.yebeh.2025.110575_b0375","doi-asserted-by":"crossref","unstructured":"Knowles, J. K., Helbig, I., Metcalf, C. S., Lubbers, L. S., Isom, L. L., Demarest, S., \u2026 Lowenstein, D. H. (2022, October 1). Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia, Vol. 63, pp. 2461\u20132475. John Wiley and Sons Inc. doi:10.1111\/epi.17332.","DOI":"10.1111\/epi.17332"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0090","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/s40291-023-00687-6","article-title":"Viral Vector-Based Gene Therapy for Epilepsy: What Does the Future Hold?","volume":"28","author":"Bettegazzi","year":"2024","journal-title":"Mol Diagn Ther"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0220","doi-asserted-by":"crossref","DOI":"10.20517\/rdodj.2024.07","article-title":"Gene therapy for Dravet syndrome: promises and impact on disease trigger and secondary modifications","volume":"3","author":"Di Berardino","year":"2024","journal-title":"Rare Dis Orphan Drugs J"},{"key":"10.1016\/j.yebeh.2025.110575_b0805","doi-asserted-by":"crossref","unstructured":"Zimmern, V., Minassian, B., & Korff, C. (2022, February 17). A Review of Targeted Therapies for Monogenic Epilepsy Syndromes. Frontiers in Neurology, Vol. 13. Frontiers Media S.A. doi:10.3389\/fneur.2022.829116.","DOI":"10.3389\/fneur.2022.829116"},{"issue":"12","key":"10.1016\/j.yebeh.2025.110575_b0045","doi-asserted-by":"crossref","DOI":"10.1111\/epi.12007","article-title":"Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency","volume":"53","author":"Arsov","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2025.110575_b0305","doi-asserted-by":"crossref","unstructured":"Helbig, I., & Ellis, C. A. (2020, August 1). Personalized medicine in genetic epilepsies \u2013 possibilities, challenges, and new frontiers. Neuropharmacology, Vol. 172. Elsevier Ltd. doi:10.1016\/j.neuropharm.2020.107970.","DOI":"10.1016\/j.neuropharm.2020.107970"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0370","first-page":"9","article-title":"Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency","volume":"54","author":"Kava","year":"2020","journal-title":"JIMD Rep"},{"key":"10.1016\/j.yebeh.2025.110575_b0745","doi-asserted-by":"crossref","DOI":"10.1002\/epi4.13121","article-title":"Inherited metabolic epilepsies-established diseases, new approaches","author":"Tokatly Latzer","year":"2024","journal-title":"Epilepsia Open"},{"key":"10.1016\/j.yebeh.2025.110575_b0250","doi-asserted-by":"crossref","unstructured":"Fan, H. C., Yang, M. T., Lin, L. C., Chiang, K. L., & Chen, C. M. (2024, January 1). Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy. International Journal of Molecular Sciences, Vol. 25. Multidisciplinary Digital Publishing Institute (MDPI). doi:10.3390\/ijms25010031.","DOI":"10.3390\/ijms25010031"},{"issue":"2","key":"10.1016\/j.yebeh.2025.110575_b0285","doi-asserted-by":"crossref","first-page":"49","DOI":"10.2217\/fnl-2018-0001","article-title":"The mTOR pathway in treatment of epilepsy: a clinical update","volume":"13","author":"Griffith","year":"2018","journal-title":"Future Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0505","doi-asserted-by":"crossref","unstructured":"Moloney, P. B., Cavalleri, G. L., & Delanty, N. (2021). Epilepsy in the mTORopathies: opportunities for precision medicine. Brain Communications, Vol. 3. Oxford University Press. doi:10.1093\/braincomms\/fcab222.","DOI":"10.1093\/braincomms\/fcab222"},{"issue":"10","key":"10.1016\/j.yebeh.2025.110575_b0510","doi-asserted-by":"crossref","first-page":"3341","DOI":"10.1111\/ene.15975","article-title":"Everolimus precision therapy for the GATOR1-related epilepsies: A case series","volume":"30","author":"Moloney","year":"2023","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.yebeh.2025.110575_b0600","doi-asserted-by":"crossref","unstructured":"Perucca, E. (2021, December 1). The pharmacological treatment of epilepsy: recent advances and future perspectives. Acta Epileptologica, Vol. 3. BioMed Central Ltd. doi:10.1186\/s42494-021-00055-z.","DOI":"10.1186\/s42494-021-00055-z"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0075","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1002\/ana.24229","article-title":"Targeted treatment of migrating partial seizures of infancy with quinidine","volume":"76","author":"Bearden","year":"2014","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.yebeh.2025.110575_b0265","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1007\/s13311-019-00739-y","article-title":"Treatment Responsiveness in KCNT1-Related Epilepsy","volume":"16","author":"Fitzgerald","year":"2019","journal-title":"Neurotherapeutics"},{"issue":"FEB","key":"10.1016\/j.yebeh.2025.110575_b0355","doi-asserted-by":"crossref","first-page":"64","DOI":"10.3389\/fneur.2019.00064","article-title":"Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review","volume":"10","author":"Jia","year":"2019","journal-title":"Front Neurol"},{"issue":"4","key":"10.1016\/j.yebeh.2025.110575_b0490","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/ana.24128","article-title":"KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine","volume":"75","author":"Milligan","year":"2014","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.yebeh.2025.110575_b0535","doi-asserted-by":"crossref","first-page":"E67","DOI":"10.1212\/WNL.0000000000004769","article-title":"Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine","volume":"90","author":"Mullen","year":"2018","journal-title":"Neurology"}],"container-title":["Epilepsy &amp; Behavior"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505025003154?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505025003154?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T20:21:31Z","timestamp":1778617291000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525505025003154"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":162,"alternative-id":["S1525505025003154"],"URL":"https:\/\/doi.org\/10.1016\/j.yebeh.2025.110575","relation":{},"ISSN":["1525-5050"],"issn-type":[{"value":"1525-5050","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic Epilepsies: Clinical pearls for early career epileptologists","name":"articletitle","label":"Article Title"},{"value":"Epilepsy & Behavior","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yebeh.2025.110575","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"110575"}}