Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.
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| Title: | Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia. |
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| Authors: | Krygier M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland., Sitek EJ; Laboratory of Clinical Neuropsychology, Neurolinguistics and Neuropsychotherapy, Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, Gdańsk, Poland.; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Chylińska M; Department of Adult Neurology, Medical University of Gdańsk, Gdańsk, Poland., Ziętkiewicz S; Intercollegiate Faculty of Biotechnology, University of Gdańsk, Gdańsk, Poland., Zawadzka M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland., Dulski J; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.; Department of Neurology, Neurodegenerative Diseases and Neuroimmunology, Faculty of Health Sciences, Medical University of Gdańsk, Gdańsk, Poland., Schinwelski M; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, Gdańsk, Poland.; Neurocentrum-Miwomed, Neurological Clinic, Gdańsk, Poland., Kostrzewa G; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Wierzba J; Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdańsk, Gdańsk, Poland., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Mazurkiewicz-Bełdzińska M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland. |
| Source: | Frontiers in neurology [Front Neurol] 2026 Mar 30; Vol. 17, pp. 1728361. Date of Electronic Publication: 2026 Mar 30 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41982418 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Krygier+M%22">Krygier M</searchLink>; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Sitek+EJ%22">Sitek EJ</searchLink>; Laboratory of Clinical Neuropsychology, Neurolinguistics and Neuropsychotherapy, Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, Gdańsk, Poland.; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.<br /><searchLink fieldCode="AU" term="%22Chylińska+M%22">Chylińska M</searchLink>; Department of Adult Neurology, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Ziętkiewicz+S%22">Ziętkiewicz S</searchLink>; Intercollegiate Faculty of Biotechnology, University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Zawadzka+M%22">Zawadzka M</searchLink>; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Dulski+J%22">Dulski J</searchLink>; Department of Neurology, St. Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.; Department of Neurology, Neurodegenerative Diseases and Neuroimmunology, Faculty of Health Sciences, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Schinwelski+M%22">Schinwelski M</searchLink>; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, Gdańsk, Poland.; Neurocentrum-Miwomed, Neurological Clinic, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Kostrzewa+G%22">Kostrzewa G</searchLink>; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Wierzba+J%22">Wierzba J</searchLink>; Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Płoski+R%22">Płoski R</searchLink>; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.<br /><searchLink fieldCode="AU" term="%22Mazurkiewicz-Bełdzińska+M%22">Mazurkiewicz-Bełdzińska M</searchLink>; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101546899%22">Frontiers in neurology</searchLink> [Front Neurol] 2026 Mar 30; Vol. 17, pp. 1728361. <i>Date of Electronic Publication: </i>2026 Mar 30 (<i>Print Publication: </i>2026). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101546899 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2295 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642295%22">16642295 </searchLink><i>NLM ISO Abbreviation: </i>Front Neurol <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41982418 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fneur.2026.1728361 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1728361 Titles: – TitleFull: Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Krygier M – PersonEntity: Name: NameFull: Sitek EJ – PersonEntity: Name: NameFull: Chylińska M – PersonEntity: Name: NameFull: Ziętkiewicz S – PersonEntity: Name: NameFull: Zawadzka M – PersonEntity: Name: NameFull: Dulski J – PersonEntity: Name: NameFull: Schinwelski M – PersonEntity: Name: NameFull: Kostrzewa G – PersonEntity: Name: NameFull: Wierzba J – PersonEntity: Name: NameFull: Płoski R – PersonEntity: Name: NameFull: Zech M – PersonEntity: Name: NameFull: Mazurkiewicz-Bełdzińska M IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 03 Text: 2026 Mar 30 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 1664-2295 Numbering: – Type: volume Value: 17 Titles: – TitleFull: Frontiers in neurology Type: main |
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