{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mencacci NE"],"funding":["University College London Hospitals","NHLBI NIH HHS","Medical Research Council","Biomedical Research Centers","University College London","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["5326-9"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4550822"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(18)"],"pubmed_abstract":["Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in ∼30-50% of cases by mutations in SGCE. The CACNA1B variant c.4166G>A; (p.R1389H) was recently reported as the likely causative mutation in a single 3-generation Dutch pedigree with five subjects affected by a unique dominant M-D syndrome and cardiac arrhythmias. In an attempt to replicate this finding, we assessed by direct sequencing the frequency of CACNA1B c.4166G>A; (p.R1389H) in a cohort of 520 M-D cases, in which SGCE mutations had been previously excluded. A total of 146 cases (28%) had a positive family history of M-D. The frequency of the variant was also assessed in 489 neurologically healthy controls and in publicly available data sets of genetic variation (1000 Genomes, Exome Variant Server and Exome Aggregati"],"journal":["Human molecular genetics"],"pubmed_title":["The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort."],"pmcid":["PMC4550822"],"funding_grant_id":["RC2 HL102926","NF-SI-0507-10376","RC2 HL102925","UC2 HL102923","RC2 HL102924","RC2 HL102923","WT089698/Z/09/Z","UC2 HL102924","MC_G1000735","UC2 HL102925","UC2 HL102926","RC2 HL103010","NF-SI-0513-10064","089698","UC2 HL103010"],"pubmed_authors":["Nardocci N","Pittman AM","Hardy J","Carecchio M","Zorzi G","Gasser T","Bandres-Ciga S","Mencacci NE","Wood NW","Garavaglia B","R'bibo L","Klein C","Bhatia KP","Weissbach A","Lohmann E","Batla A"],"additional_accession":[]},"is_claimable":false,"name":"The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.","description":"Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in ∼30-50% of cases by mutations in SGCE. The CACNA1B variant c.4166G>A; (p.R1389H) was recently reported as the likely causative mutation in a single 3-generation Dutch pedigree with five subjects affected by a unique dominant M-D syndrome and cardiac arrhythmias. In an attempt to replicate this finding, we assessed by direct sequencing the frequency of CACNA1B c.4166G>A; (p.R1389H) in a cohort of 520 M-D cases, in which SGCE mutations had been previously excluded. A total of 146 cases (28%) had a positive family history of M-D. The frequency of the variant was also assessed in 489 neurologically healthy controls and in publicly available data sets of genetic variation (1000 Genomes, Exome Variant Server and Exome Aggregati","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Sep","modification":"2026-05-30T11:18:04.653Z","creation":"2019-03-27T01:57:23Z"},"accession":"S-EPMC4550822","cross_references":{"pubmed":["26157024"],"doi":["10.1093/hmg/ddv255"]}}