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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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  Data: Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
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  Data: <searchLink fieldCode="AU" term="%22Henry+OJ%22">Henry OJ</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Ygberg+S%22">Ygberg S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Barbaro+M%22">Barbaro M</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Lesko+N%22">Lesko N</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Karlsson+L%22">Karlsson L</searchLink>; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Peña-Pérez+L%22">Peña-Pérez L</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Båvner+A%22">Båvner A</searchLink>; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Töhönen+V%22">Töhönen V</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Lindstrand+A%22">Lindstrand A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Stödberg+T%22">Stödberg T</searchLink>; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.; Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Wedell+A%22">Wedell A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2025 Aug; Vol. 66 (8), pp. 2966-2979. <i>Date of Electronic Publication: </i>2025 Apr 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Science%22">Blackwell Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>2983306R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-1167 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200139580%22">00139580 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia <i>Subsets: </i>MEDLINE
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              Text: 2025 Aug
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