Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

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Title: Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Authors: Henry OJ; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Ygberg S; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.; Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden., Barbaro M; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Lesko N; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Karlsson L; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden., Peña-Pérez L; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Båvner A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Töhönen V; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Stödberg T; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.; Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden., Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Source: Epilepsia [Epilepsia] 2025 Aug; Vol. 66 (8), pp. 2966-2979. Date of Electronic Publication: 2025 Apr 04.
Publication Type: Journal Article
Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1528-1167
DOI:10.1111/epi.18403