Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.
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| Title: | Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families. |
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| Authors: | Muhammad A; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan., Inayat F; Department of Biochemistry, Abdul Wali Khan University, Mardan, 23200, Pakistan., Sethi BA; Perinatal Medicine, Northwest General Hospital and Research center, Peshawar, Pakistan., Kashif M; Department of Child Health, Medical Teaching Institution, Khyber Teaching Hospital, Peshawar, Pakistan., Khan AU; Department of Neurology, Medical Teaching Institution, Lady Reading Hospital, Peshawar, Pakistan., Ahmad S; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan., Atlas A; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan., Rehman SU; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, 25000, Pakistan. tahirsarwar.ibms@kmu.edu.pk. |
| Source: | Molecular biology reports [Mol Biol Rep] 2025 Sep 26; Vol. 52 (1), pp. 952. Date of Electronic Publication: 2025 Sep 26. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41003830 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Muhammad+A%22">Muhammad A</searchLink>; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Inayat+F%22">Inayat F</searchLink>; Department of Biochemistry, Abdul Wali Khan University, Mardan, 23200, Pakistan.<br /><searchLink fieldCode="AU" term="%22Sethi+BA%22">Sethi BA</searchLink>; Perinatal Medicine, Northwest General Hospital and Research center, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Kashif+M%22">Kashif M</searchLink>; Department of Child Health, Medical Teaching Institution, Khyber Teaching Hospital, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+AU%22">Khan AU</searchLink>; Department of Neurology, Medical Teaching Institution, Lady Reading Hospital, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ahmad+S%22">Ahmad S</searchLink>; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Atlas+A%22">Atlas A</searchLink>; Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Rehman+SU%22">Rehman SU</searchLink>; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan.<br /><searchLink fieldCode="AU" term="%22Sarwar+MT%22">Sarwar MT</searchLink>; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, 25000, Pakistan. tahirsarwar.ibms@kmu.edu.pk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220403234%22">Molecular biology reports</searchLink> [Mol Biol Rep] 2025 Sep 26; Vol. 52 (1), pp. 952. <i>Date of Electronic Publication: </i>2025 Sep 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Reidel%22">Reidel </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>0403234 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-4978 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203014851%22">03014851 </searchLink><i>NLM ISO Abbreviation: </i>Mol Biol Rep <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41003830 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s11033-025-11087-w Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 952 Titles: – TitleFull: Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Muhammad A – PersonEntity: Name: NameFull: Inayat F – PersonEntity: Name: NameFull: Sethi BA – PersonEntity: Name: NameFull: Kashif M – PersonEntity: Name: NameFull: Khan AU – PersonEntity: Name: NameFull: Ahmad S – PersonEntity: Name: NameFull: Atlas A – PersonEntity: Name: NameFull: Rehman SU – PersonEntity: Name: NameFull: Sarwar MT IsPartOfRelationships: – BibEntity: Dates: – D: 26 M: 09 Text: 2025 Sep 26 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1573-4978 Numbering: – Type: volume Value: 52 – Type: issue Value: 1 Titles: – TitleFull: Molecular biology reports Type: main |
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