{"id":"https://openalex.org/W4403402619","doi":"https://doi.org/10.1111/cge.14627","title":"Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MOCS2 , and OPHN1","display_name":"Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MOCS2 , and OPHN1","publication_year":2024,"publication_date":"2024-10-14","ids":{"openalex":"https://openalex.org/W4403402619","doi":"https://doi.org/10.1111/cge.14627","pmid":"https://pubmed.ncbi.nlm.nih.gov/39400946"},"language":"en","primary_location":{"id":"doi:10.1111/cge.14627","doi":"https://doi.org/10.1111/cge.14627","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cge.14627","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14627","source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14627","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Afrasiab Khan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210154218","display_name":"University of Science and Technology Bannu","ror":"https://ror.org/04be2dn15","country_code":"PK","type":"education","lineage":["https://openalex.org/I4210154218"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Afrasiab Khan","raw_affiliation_strings":["Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","institution_ids":["https://openalex.org/I4210154218"]},{"raw_affiliation_string":"Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan","institution_ids":["https://openalex.org/I4210154218"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Anees Muhammad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I24542750","display_name":"Khyber Medical University","ror":"https://ror.org/00nv6q035","country_code":"PK","type":"education","lineage":["https://openalex.org/I24542750"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Anees Muhammad","raw_affiliation_strings":["Department of Molecular Biology & Genetics Institute of Basic Medical Sciences, Khyber Medical University  Peshawar Pakistan","Department of Molecular Biology & Genetics Institute of Basic Medical Sciences, Khyber Medical University Peshawar Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology & Genetics Institute of Basic Medical Sciences, Khyber Medical University  Peshawar Pakistan","institution_ids":["https://openalex.org/I24542750"]},{"raw_affiliation_string":"Department of Molecular Biology & Genetics Institute of Basic Medical Sciences, Khyber Medical University Peshawar Pakistan","institution_ids":["https://openalex.org/I24542750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103078738","display_name":"Hidayat Ullah","orcid":"https://orcid.org/0000-0003-2402-8350","observed_orcids":["https://orcid.org/0000-0003-2402-8350"]},"institutions":[{"id":"https://openalex.org/I4210154218","display_name":"University of Science and Technology Bannu","ror":"https://ror.org/04be2dn15","country_code":"PK","type":"education","lineage":["https://openalex.org/I4210154218"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Hidayat Ullah","raw_affiliation_strings":["Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","institution_ids":["https://openalex.org/I4210154218"]},{"raw_affiliation_string":"Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan","institution_ids":["https://openalex.org/I4210154218"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Hina Ambreen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210154218","display_name":"University of Science and Technology Bannu","ror":"https://ror.org/04be2dn15","country_code":"PK","type":"education","lineage":["https://openalex.org/I4210154218"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Hina Ambreen","raw_affiliation_strings":["Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","institution_ids":["https://openalex.org/I4210154218"]},{"raw_affiliation_string":"Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan","institution_ids":["https://openalex.org/I4210154218"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Abeed Ullah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210154218","display_name":"University of Science and Technology Bannu","ror":"https://ror.org/04be2dn15","country_code":"PK","type":"education","lineage":["https://openalex.org/I4210154218"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Abeed Ullah","raw_affiliation_strings":["Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","institution_ids":["https://openalex.org/I4210154218"]},{"raw_affiliation_string":"Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan","institution_ids":["https://openalex.org/I4210154218"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057437092","display_name":"Patrick May","orcid":"https://orcid.org/0000-0001-8698-3770","observed_orcids":["https://orcid.org/0000-0001-8698-3770"]},"institutions":[{"id":"https://openalex.org/I186903577","display_name":"University of Luxembourg","ror":"https://ror.org/036x5ad56","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577"]},{"id":"https://openalex.org/I4405257232","display_name":"Luxembourg Centre for Systems Biomedicine","ror":"https://ror.org/051tr1y59","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577","https://openalex.org/I4405257232"]}],"countries":["LU"],"is_corresponding":false,"raw_author_name":"Patrick May","raw_affiliation_strings":["Luxembourg Centre for Systems Biomedicine University of Luxembourg  Esch\u2010sur\u2010Alzette Luxembourg","Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg"],"raw_orcid":"https://orcid.org/0000-0001-8698-3770","affiliations":[{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine University of Luxembourg  Esch\u2010sur\u2010Alzette Luxembourg","institution_ids":["https://openalex.org/I186903577","https://openalex.org/I4405257232"]},{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg","institution_ids":["https://openalex.org/I186903577","https://openalex.org/I4405257232"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108111448","display_name":"Holger Lerche","orcid":"https://orcid.org/0000-0002-1783-8710","observed_orcids":["https://orcid.org/0000-0002-1783-8710"]},"institutions":[{"id":"https://openalex.org/I4210141865","display_name":"Hertie Institute for Clinical Brain Research","ror":"https://ror.org/04zzwzx41","country_code":"DE","type":"other","lineage":["https://openalex.org/I4210094118","https://openalex.org/I4210141865","https://openalex.org/I8087733"]},{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Holger Lerche","raw_affiliation_strings":["Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research, University of Tuebingen  Tuebingen Germany","Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research, University of Tuebingen  Tuebingen Germany","institution_ids":["https://openalex.org/I4210141865","https://openalex.org/I8087733"]},{"raw_affiliation_string":"Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany","institution_ids":["https://openalex.org/I4210141865","https://openalex.org/I8087733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011228927","display_name":"Tobias B. Haack","orcid":"https://orcid.org/0000-0001-6033-4836","observed_orcids":["https://orcid.org/0000-0001-6033-4836"]},"institutions":[{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Tobias B. Haack","raw_affiliation_strings":["Institute of Medical Genetics and Applied Genomics University of Tuebingen  Tuebingen Germany","Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics and Applied Genomics University of Tuebingen  Tuebingen Germany","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Shoaib ur Rehman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210154218","display_name":"University of Science and Technology Bannu","ror":"https://ror.org/04be2dn15","country_code":"PK","type":"education","lineage":["https://openalex.org/I4210154218"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Shoaib ur Rehman","raw_affiliation_strings":["Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Science and Technology Bannu  Bannu Pakistan","institution_ids":["https://openalex.org/I4210154218"]},{"raw_affiliation_string":"Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan","institution_ids":["https://openalex.org/I4210154218"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024547247","display_name":"Josua Kegele","orcid":"https://orcid.org/0000-0002-0126-7466","observed_orcids":["https://orcid.org/0000-0002-0126-7466"]},"institutions":[{"id":"https://openalex.org/I4210141865","display_name":"Hertie Institute for Clinical Brain Research","ror":"https://ror.org/04zzwzx41","country_code":"DE","type":"other","lineage":["https://openalex.org/I4210094118","https://openalex.org/I4210141865","https://openalex.org/I8087733"]},{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Josua Kegele","raw_affiliation_strings":["Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research, University of Tuebingen  Tuebingen Germany","Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research, University of Tuebingen  Tuebingen Germany","institution_ids":["https://openalex.org/I4210141865","https://openalex.org/I8087733"]},{"raw_affiliation_string":"Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany","institution_ids":["https://openalex.org/I4210141865","https://openalex.org/I8087733"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5024547247"],"corresponding_institution_ids":["https://openalex.org/I4210141865","https://openalex.org/I8087733"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":{"value":4980,"currency":"USD","value_usd":4980},"fwci":0.5438,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.68396546,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":96},"biblio":{"volume":"107","issue":"1","first_page":"98","last_page":"103"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.5327000021934509,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.5327000021934509,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.45899999141693115,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.00139999995008111,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-epilepsy","display_name":"familial epilepsy","score":0.9559999704360962},{"id":"https://openalex.org/keywords/monogenic-epilepsy","display_name":"monogenic epilepsy","score":0.7549999952316284},{"id":"https://openalex.org/keywords/pashtun-population","display_name":"Pashtun population","score":0.8339999914169312},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8880000114440918},{"id":"https://openalex.org/keywords/oligophrenin-1","display_name":"OPHN1","score":1.0},{"id":"https://openalex.org/keywords/molybdenum-cofactor-deficiency","display_name":"molybdenum cofactor deficiency","score":1.0},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.460999995470047},{"id":"https://openalex.org/keywords/low-and-middle-income-countries","display_name":"low- and middle-income countries","score":0.6990000009536743}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7029643058776855},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6212030053138733},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5493797659873962},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.521215558052063},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.49720194935798645},{"id":"https://openalex.org/C2779923321","wikidata":"https://www.wikidata.org/wiki/Q774347","display_name":"Consanguinity","level":2,"score":0.48925161361694336},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.47138911485671997},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.46722090244293213},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.41850078105926514},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.4149947166442871},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.31701046228408813},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2345227301120758},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.20218276977539062},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.17207005620002747},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.1119663417339325},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.06619620323181152},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010154","descriptor_name":"Pakistan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010154","descriptor_name":"Pakistan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010154","descriptor_name":"Pakistan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010154","descriptor_name":"Pakistan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1111/cge.14627","doi":"https://doi.org/10.1111/cge.14627","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cge.14627","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14627","source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:39400946","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39400946","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical genetics","raw_type":"Journal Article"},{"id":"pmh:oai:orbilu.uni.lu:10993/62217","doi":null,"is_oa":true,"landing_page_url":"https://orbilu.uni.lu/handle/10993/62217","pdf_url":"https://orbilu.uni.lu/bitstream/10993/62217/1/Clinical%20Genetics%20-%202024%20-%20Khan%20-%20Exome%20Sequencing%20of%20Consanguineous%20Pashtun%20Families%20With%20Familial%20Epilepsy%20Reveals.pdf","source":{"id":"https://openalex.org/S4306401815","display_name":"Open Repository and Bibliography (University of Luxembourg)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I186903577","host_organization_name":"University of Luxembourg","host_organization_lineage":["https://openalex.org/I186903577"],"host_organization_lineage_names":[],"type":"repository"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Genetics (2024-10-14)","raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:oai:pubmedcentral.nih.gov:11608837","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11608837","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11608837/pdf/CGE-107-98.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clin Genet","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1111/cge.14627","doi":"https://doi.org/10.1111/cge.14627","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cge.14627","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14627","source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.4099999964237213,"id":"https://metadata.un.org/sdg/1","display_name":"No poverty"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1402406509","display_name":null,"funder_award_id":"FOR\u20102715","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G4858968866","display_name":null,"funder_award_id":"INTER/DFG/21/16394868","funder_id":"https://openalex.org/F4320321038","funder_display_name":"Fonds National de la Recherche Luxembourg"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321038","display_name":"Fonds National de la Recherche Luxembourg","ror":"https://ror.org/039z13y21"},{"id":"https://openalex.org/F4320321112","display_name":"Eberhard Karls Universit\u00e4t T\u00fcbingen","ror":"https://ror.org/03a1kwz48"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4403402619.pdf","grobid_xml":"https://content.openalex.org/works/W4403402619.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W1989170434","https://openalex.org/W2051978340","https://openalex.org/W2106984490","https://openalex.org/W2138998979","https://openalex.org/W2152902515","https://openalex.org/W2159800234","https://openalex.org/W2487598064","https://openalex.org/W2503100207","https://openalex.org/W2790332130","https://openalex.org/W2791757160","https://openalex.org/W2945197570","https://openalex.org/W3209757015","https://openalex.org/W4223980550","https://openalex.org/W4306399071","https://openalex.org/W4307234772","https://openalex.org/W4366692695"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W4402567428","https://openalex.org/W3009821664","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746"],"abstract_inverted_index":{"Next-generation":[0],"sequencing":[1,81,177,187],"is":[2,137],"advancing":[3],"in":[4,56,108,130,155,178,191],"low-":[5],"and":[6,24,68,89,197],"middle-income":[7],"countries,":[8],"but":[9],"accessibility":[10],"remains":[11],"limited.":[12],"In":[13,93,143],"Pakistan,":[14],"many":[15],"members":[16],"of":[17,54,71,79,82,175],"the":[18,51,57,69,173,182],"Pashtun":[19,58,183],"population":[20],"practice":[21],"familial":[22],"marriage":[23],"maintain":[25],"distinct":[26,98],"socio-cultural":[27],"traditions,":[28],"isolating":[29],"them":[30],"from":[31],"other":[32],"ethnic":[33],"groups.":[34],"As":[35],"a":[36,63,103,124,150],"result,":[37],"they":[38],"may":[39,204],"harbor":[40],"genetic":[41,52,179,201],"variants":[42],"that":[43],"could":[44],"unveil":[45],"new":[46],"gene-disease":[47],"associations.":[48],"To":[49],"investigate":[50],"basis":[53],"epilepsy":[55,88],"community":[59],"we":[60,74,96],"recently":[61],"established":[62,190],"collaboration":[64],"between":[65],"Bannu":[66],"University":[67,70],"Tuebingen.":[72],"Here":[73],"report":[75],"our":[76],"first":[77],"results":[78],"exome":[80],"four":[83],"families":[84],"with":[85,139,167],"presumed":[86],"monogenetic":[87],"Mendelian":[90],"inheritance":[91],"pattern.":[92],"Family":[94],"#201,":[95],"identified":[97],"disease-causing":[99],"variants.":[100],"One":[101],"had":[102,123],"homozygous":[104,125],"pathogenic":[105],"missense":[106,128],"variant":[107,129,154],"TSEN54":[109],"(c.919G":[110],">":[111,133,158],"T,":[112],"p.(Ala307Ser)),":[113],"linked":[114],"to":[115,162],"Pontocerebellar":[116],"Hypoplasia":[117],"Type":[118],"2A.":[119],"The":[120],"second":[121],"individual":[122,148],"class":[126,152],"IV":[127],"MOCS2":[131],"(c.226G":[132],"A,":[134,159],"p.(Gly76Arg))":[135],"which":[136],"associated":[138],"Molybdenum":[140],"cofactor":[141],"deficiency.":[142],"family":[144],"EP02,":[145],"one":[146],"affected":[147],"carried":[149],"heterozygous":[151],"III":[153],"OPHN1":[156],"(c.1490G":[157],"p.(Arg497Gln)),":[160],"related":[161],"syndromic":[163],"X-linked":[164],"intellectual":[165],"disability":[166],"epilepsy.":[168],"Our":[169],"small":[170],"study":[171],"demonstrates":[172],"promise":[174],"next-generation":[176,186],"epilepsies":[180],"among":[181],"population.":[184],"Diagnostic":[185],"should":[188],"be":[189],"Pakistan":[192],"as":[193,195],"soon":[194],"possible,":[196],"if":[198],"not":[199],"feasible,":[200],"research":[202],"projects":[203],"pioneer":[205],"this":[206],"path.":[207]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2024-10-15T00:00:00"}