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Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.

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Bibliographic Details
Title: Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.
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
Description
ISSN:1573-4978
DOI:10.1007/s11033-025-11087-w