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It also highlights the impact of next-generation sequencing, emphasizing exome or genome sequencing for most patients with unexplained epilepsy.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/epilepsy-genetics-review-article/626640/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/epilepsy-genetics-review-article/626640.png","ImageObject",300,407,{"name":42,"@type":43},"McGucket","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-11-10","2026-10-20",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",7,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What is the objective of Epilepsy Genetics?","Question",{"text":63,"@type":64},"The article reviews core concepts and terminology in epilepsy genetics and outlines guidance on pursuing genetic evaluation. 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Exome and genome sequencing may have high diagnostic yields in patients with unexplained epilepsy. The body of knowledge in epilepsy genetics is growing more complex, not only because of gene discovery but also because of an increasingly nuanced understanding of the varying pathophysiologic effects of specific types of variation within epilepsy genes.  \nESSENTIAL POINTS: Genetic testing plays a key role in the evaluation of epilepsy patients. Clinicians caring for patients with epilepsy should understand patient selection, test selection, and result interpretation in genetic testing. The recommended first-line test in most patients is exome or genome sequencing.  \nINTRODUCTION  \nD  \nefining the etiology of a patient’s epilepsy is a critical part of comprehensive epilepsy care. Understanding the cause of someone’s epilepsy can influence prognostic counseling, awareness of comorbid conditions, and treatment choices. The pillars of evaluation are clinical history, imaging, neurophysiology, genetics,  \nand when appropriate, laboratory testing for metabolic or immunologic disorders. Although genetic variation likely underlies epilepsy susceptibility in many patients in complex ways (including risk of epilepsy after acquired injury or genetic generalized epilepsies that have polygenic causes), the clinical use of genetic testing for etiologic diagnosis is currently focused on identifying single-gene disorders. With the expanding number of choices for genetic tests and the complexity of interpretation of results, genetic evaluation in clinical practice can feel daunting. Epileptologists will increasingly need to partner with genetic specialists to carry out diagnostic testing (eg, in the way that we partner with neuroradiologists for imaging interpretation), but genetic literacy and  \nREVIEW ARTICLE  \n􀀁  \nCONTINUUM AUDIO INTERVIEW AVAILABLE ONLINE  \nCITE AS:  \nCONTINUUM (MIN NEA P M INN) 2025;31(1, EPILEPSY):81 –94.  \nAddress correspondence to Dr Sudha Kilaru Kessler, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, [KESSLERS@chop.edu](KESSLERS@chop.edu).  \nRELATIONSHIP DISCLOSURE: Dr Kessler hasanoncompensated relationship as a volunteer committee member with the American Epilepsy Society and anoncompensated relationship as a committee member with the American Board of Psychiatry and Neurology that are relevant to American Academy of Neurology (AAN)  \ninterests or activities, has received personal compensation in the range of $500 to $4999 for serving as a consultant for Efficient LLC, Jazz Pharmaceuticals, Inc, and Takeda Pharmaceutical Company Limited; in the range of $5000 to $9999 for serving asan expert witness for Wilson Elser. The institution of Dr Kessler has received research support from the Commonwealth of Pennsylvania, Eisai Co Ltd, The Epilepsy Study Consortium, Jazz Pharmaceuticals, Inc, Patientcentered Outcomes Research at the Agency for Healthcare Research and Quality, SK Life Science, Inc, UCB S. A. , and the US Food and Drug Administration (FDA); and in the range of $5000 to $9999 for serving as a consultant for The Epilepsy Study Consortium.  \nUNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE:  \nDr Kessler reports no disclosure.  \n© 2025 American Academy of Neurology.  \nCONTINU","cbCaikFRDgSGwV0w","https://ap.wps.com/l/cbCaikFRDgSGwV0w","pdf",152013,14,"English","# ABSTRACT\n## OBJECTIVE\n## LATEST DEVELOPMENTS\n## ESSENTIAL POINTS\n# INTRODUCTION\n# AN APPROACH TO GENETIC EPILEPSIES\n## Developmental and epileptic encephalopathies\n# Self-limited epilepsies in neonates and infants","[{\"question\":\"What is the objective of Epilepsy Genetics?\",\"answer\":\"The article reviews core concepts and terminology in epilepsy genetics and outlines guidance on pursuing genetic evaluation. It also summarizes genetic syndromes and provides examples of how genetic diagnosis affects epilepsy care.\"},{\"question\":\"Why has genetic testing become more important in epilepsy care?\",\"answer\":\"Next-generation sequencing has increased the ability to make etiologic diagnoses for more epilepsy patients. Genetic testing is also increasingly complex due to a growing number of genes and nuanced interpretations of variation.\"},{\"question\":\"What test is recommended as the first line in most patients?\",\"answer\":\"The recommended first-line test in most epilepsy patients is exome or genome sequencing.\"}]","Epilepsy Genetics - Review Article | PDF",1792539055,35]