ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Zuberi, Sameer M.; Wirrell, Elaine; Yozawitz, Elissa; Wilmshurst, Jo M.; Specchio, Nicola; Riney, Kate; Pressler, Ronit; Auvin, Stéphane; Samia, Pauline; Hirsch, Édouard; Galicchio, Santiago; Triki, Chahnez; Snead, O. Carter; Wiebe, Samuel; Cross, J. Helen; Tinuper, Paolo; Scheffer, Ingrid E.; Perucca, Emilio; Moshé, Solomon L.; Nabbout, Rima

doi:10.1111/epi.17239

Cited by 420 publications

(442 citation statements)

References 238 publications

(668 reference statements)

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“…21 • Epilepsy syndromes with onset in neonates and infants (for the purpose of the proposed classification, infancy was defined as the period up to age 24 months). 22 • Epilepsy syndromes with onset in childhood. 23 • Epilepsy syndromes with onset at a variable age.…”

Section: Resultsmentioning

confidence: 99%

“…Position papers that arose from each working group include: IGEs 21 Epilepsy syndromes with onset in neonates and infants (for the purpose of the proposed classification, infancy was defined as the period up to age 24 months) 22 Epilepsy syndromes with onset in childhood 23 …”

Section: Resultsmentioning

confidence: 99%

“…MTLE-HS and Rasmussen syndrome are included in the epilepsy syndromes with onset at a variable age, 24 HHE is included in the epilepsy syndromes with onset in childhood, 23 and gelastic seizures with hypothalamic hamartoma are included in the epilepsy syndromes with onset in neonates and infants. 22 Furthermore, there are gene-specific epilepsy syndromes, characterized by distinct electroclinical phenotypes due to a pathogenic variant in a single gene. Examples include CDKL5-DEE, PCDH19 clustering epilepsy, glucose transporter 1 deficiency syndrome-DEE, and KCNQ2-DEE.…”

Section: Do We Include the Increasing Number Of Etiology-specific Epi...mentioning

confidence: 99%

“…The diagnostic criteria and detailed summaries of each syndrome are discussed in the respective position papers. [21][22][23][24] 4 | DISCUSSION Epilepsy syndromes have been recognized for >50 years, and their identification is critical in guiding investigations, selecting optimal therapy, and assisting with prognostic counseling on seizure outcome and comorbidities. Although both the 1985 and 1989 Classifications of the Epilepsies refer to the existence of syndromes, syndromespecific diagnostic criteria have not been defined and subjected to a formal consensus process.…”

Section: Modified Delphi Processmentioning

confidence: 99%

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Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

et al. 2022

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Epilepsy syndromes have been recognized for >50 years, as distinct electroclinical phenotypes with therapeutic and prognostic implications. Nonetheless, no formally accepted International League Against Epilepsy (ILAE) classification of epilepsy syndromes has existed. The ILAE Task Force on Nosology and Definitions was established to reach consensus regarding which entities fulfilled criteria for an epilepsy syndrome and to provide definitions for each syndrome. We defined an epilepsy syndrome as "a characteristic cluster of clinical and electroencephalographic features, often supported by specific etiological findings (structural, genetic, metabolic, immune, and infectious)." The diagnosis of a syndrome in an individual with epilepsy frequently carries prognostic and treatment implications. Syndromes often have age-dependent presentations and a range of specific comorbidities. This paper describes the guiding principles and process for syndrome identification in both children and adults, and the template of clinical data included for each syndrome. We divided syndromes into typical age at onset, and further characterized them based on seizure and epilepsy types and association with developmental and/ or epileptic encephalopathy or progressive neurological deterioration. Definitions for each specific syndrome are contained within the corresponding position papers.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Do We Include the Increasing Number Of Etiology-specific Epi...mentioning

confidence: 99%

Section: Modified Delphi Processmentioning

confidence: 99%

See 2 more Smart Citations

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

et al. 2022

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“…A syndrome has a "variable age" of onset if it can begin both in those aged ≤18 years and in those aged ≥19 years (i.e., in both pediatric and adult patients). Epilepsy syndromes that typically only begin in the neonate, infant, or child are covered elsewhere 2,3 …”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021). We use language consistent with current accepted epilepsy and seizure classifications and incorporate knowledge from advances in genetics, electroencephalography, and imaging. Our aim in delineating the epilepsy syndromes that present at a variable age is to aid diagnosis and to guide investigations for etiology and treatments for these patients.

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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

Koh,

Smith,

Wiltrout

et al. 2023

JAMA Netw Open

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ImportanceGenomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling.ObjectiveTo delineate the genetic landscape of pediatric epilepsy and clinical utility of genetic diagnoses for patients with epilepsy.Design, Setting, and ParticipantsThis cohort study used phenotypic data from medical records and treating clinicians at a pediatric hospital to identify patients with unexplained pediatric-onset epilepsy. Exome sequencing was performed for 522 patients and available biological parents, and sequencing data were analyzed for single nucleotide variants (SNVs) and copy number variants (CNVs). Variant pathogenicity was assessed, patients were provided with their diagnostic results, and clinical utility was evaluated. Patients were enrolled from August 2018 to October 2021, and data were analyzed through December 2022.ExposuresPhenotypic features associated with diagnostic genetic results.Main Outcomes and MeasuresMain outcomes included diagnostic yield and clinical utility. Diagnostic findings included variants curated as pathogenic, likely pathogenic (PLP), or diagnostic variants of uncertain significance (VUS) with clinical features consistent with the involved gene’s associated phenotype. The proportion of the cohort with diagnostic findings, the genes involved, and their clinical utility, defined as impact on clinical treatment, prognosis, or surveillance, are reported.ResultsA total of 522 children (269 [51.5%] male; mean [SD] age at seizure onset, 1.2 [1.4] years) were enrolled, including 142 children (27%) with developmental epileptic encephalopathy and 263 children (50.4%) with intellectual disability. Of these, 100 participants (19.2%) had identifiable genetic explanations for their seizures: 89 participants had SNVs (87 germline, 2 somatic mosaic) involving 69 genes, and 11 participants had CNVs. The likelihood of identifying a genetic diagnosis was highest in patients with intellectual disability (adjusted odds ratio [aOR], 2.44; 95% CI, 1.40-4.26), early onset seizures (aOR, 0.93; 95% CI, 0.88-0.98), and motor impairment (aOR, 2.19; 95% CI 1.34-3.58). Among 43 patients with apparently de novo variants, 2 were subsequently determined to have asymptomatic parents harboring mosaic variants. Of 71 patients who received diagnostic results and were followed clinically, 29 (41%) had documented clinical utility resulting from their genetic diagnoses.Conclusions and RelevanceThese findings suggest that pediatric-onset epilepsy is genetically heterogeneous and that some patients with previously unexplained pediatric-onset epilepsy had genetic diagnoses with direct clinical implications.

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ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 420 publications

References 238 publications

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

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

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

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