{"doi":"10.1016/j.jns.2020.116826","title":"Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis","abstract":null,"journal":"Journal of the Neurological Sciences","year":2020,"id":681537,"datarank":0.31191623125197543,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.0,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":242883,"name":"Stéphanie Efthymiou","orcid":"0000-0003-4900-9877","position":1,"is_corresponding":false},{"id":342954,"name":"Tipu Sultan","orcid":"0000-0001-9398-2127","position":2,"is_corresponding":false},{"id":406924,"name":"Marcello Scala","orcid":"0000-0003-2194-7239","position":3,"is_corresponding":false},{"id":1334054,"name":"Javeria Raza Alvi","orcid":"0000-0002-3452-1862","position":4,"is_corresponding":false},{"id":1780684,"name":"Caroline Neuray","orcid":null,"position":5,"is_corresponding":false},{"id":325974,"name":"Natalia Dominik","orcid":"0000-0001-7476-6605","position":6,"is_corresponding":false},{"id":1470692,"name":"Asma Gul","orcid":"0000-0003-0338-3134","position":7,"is_corresponding":false},{"id":52692,"name":"Henry Houlden","orcid":"0000-0002-2866-7777","position":8,"is_corresponding":false},{"id":1780683,"name":"Beenish Azad","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis","abstract":"BACKGROUND: Neuronal ceroid lipofuscinosis (NCL) is a hereditary lysosomal storage disease with progressive brain neurodegeneration. Mutations in ceroid lipofuscinosis neuronal protein 5 (CLN5) cause CLN5 disease, a severe condition characterized by seizures, visual failure, motor decline, and progressive cognitive deterioration. This study aimed to identify causative gene variants in Pakistani consanguineous families diagnosed with NCL. METHODS: After a thorough clinical and neuroradiological characterization, whole exome sequencing (WES) was performed in 3 patients from 2 unrelated families. Segregation analysis was subsequently performed through Sanger sequencing ANALYSIS: WES led to the identification of the 2 novel homozygous variants c.925_926del, (p.Leu309AlafsTer4) and c.477 T > C, (p.Cys159Arg). CONCLUSION: In this study, we report two novel CLN5 cases in the Punjab region of Pakistan. Our observations will help clinicians observe and compare common and unique clinical features of NCL patients, further improving our current understanding of NCL.","is_dataset_classified":null,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"32302805","pmcid":"PMC7306150","openalex_id":"https://openalex.org/W3016158054","authors":[],"funders":[{"funder_name":"Muscular Dystrophy UK","grant_id":"18GRO-PG12-0278","title":null},{"funder_name":"Medical Research Council","grant_id":"G0802760","title":null},{"funder_name":"National Institute for Health Research (NIHR)","grant_id":"NF-SI-0515-10082","title":null},{"funder_name":"Wellcome Trust","grant_id":"WT104033AIA","title":null},{"funder_name":"Ataxia UK","grant_id":"ZUCLBETT","title":null},{"funder_name":"Medical Research Council","grant_id":"G1001253","title":null},{"funder_name":"Medical 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Neuromuscular Diseases"},{"funder_name":"Vivensa Foundation","grant_id":"R605/0717","title":null},{"funder_name":"Wellcome Trust","grant_id":"104033/Z/14/Z","title":null},{"funder_name":"Brain Research UK","grant_id":"UCCHoulden","title":null},{"funder_name":"Wellcome Trust","grant_id":"WT093205","title":null},{"funder_name":"Rosetrees","grant_id":"M584","title":null},{"funder_name":"Wellcome Trust","grant_id":"093205","title":"Development of an Institute of Neurology Next Generation Sequencing Facility Equipment Grant."},{"funder_name":"Wellcome Trust","grant_id":"104033","title":"Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders."},{"funder_name":"MSA Trust","grant_id":"","title":null},{"funder_name":"Brain Research UK","grant_id":"","title":null},{"funder_name":"Higher Education Commission of Pakistan","grant_id":"","title":null},{"funder_name":"Muscular Dystrophy UK","grant_id":"","title":null},{"funder_name":"National Institute for 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