{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Perrier S"],"pubmed_abstract":["<h4>Introduction</h4>Rare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and lessons learned in the genetic investigations of leukodystrophies through presentation of a series of cases solved using exome or genome sequencing.<h4>Methods</h4>Each of the six patients had a leukodystrophy associated with hypomyelination or delayed myelination on MRI, and inconclusive clinical diagnostic genetic testing results. We performed next generation sequencing (case-based exome or genome sequencing) to further investigate the genetic cause of disease.<h4>Results</h4>Followi"],"journal":["Frontiers in neurology"],"pagination":["1148377"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10108901"],"repository":["biostudies-literature"],"pubmed_title":["Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing."],"pmcid":["PMC10108901"],"pubmed_authors":["Tran LT","Sylvain M","Legault G","Dorman J","Michell-Robinson MA","Demos M","Kohler W","Perrier S","Brais B","Pastinen T","Thiffault I","Guerrero K","Bernard G"],"additional_accession":[]},"is_claimable":false,"name":"Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.","description":"<h4>Introduction</h4>Rare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and lessons learned in the genetic investigations of leukodystrophies through presentation of a series of cases solved using exome or genome sequencing.<h4>Methods</h4>Each of the six patients had a leukodystrophy associated with hypomyelination or delayed myelination on MRI, and inconclusive clinical diagnostic genetic testing results. We performed next generation sequencing (case-based exome or genome sequencing) to further investigate the genetic cause of disease.<h4>Results</h4>Followi","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-18T20:53:24.272Z","creation":"2024-11-20T08:02:28.507Z"},"accession":"S-EPMC10108901","cross_references":{"pubmed":["37077564"],"doi":["10.3389/fneur.2023.1148377"]}}