{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:00:37Z","timestamp":1790712037137,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2012,11,9]],"date-time":"2012-11-09T00:00:00Z","timestamp":1352419200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1007\/s00439-012-1248-1","type":"journal-article","created":{"date-parts":[[2012,11,8]],"date-time":"2012-11-08T10:30:46Z","timestamp":1352370646000},"page":"275-283","source":"Crossref","is-referenced-by-count":24,"title":["Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome"],"prefix":"10.1007","volume":"132","author":[{"given":"Siamak","family":"Karkheiran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharine E.","family":"Krebs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Makarov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yalda","family":"Nilipour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Hubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Darvish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Frucht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gholam Ali","family":"Shahidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D.","family":"Buxbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coro","family":"Pais\u00e1n-Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,11,9]]},"reference":[{"key":"1248_CR1","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.ajhg.2008.10.003","volume":"83","author":"AG Bassuk","year":"2008","unstructured":"Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI (2008) A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 83:572\u2013581","journal-title":"Am J Hum Genet"},{"key":"1248_CR2","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1016\/S0021-9258(19)39965-X","volume":"265","author":"VD Bennett","year":"1990","unstructured":"Bennett VD, Adams SL (1990) Identification of a cartilage-specific promoter within intron 2 of the chick alpha 2(I) collagen gene. J Biol Chem 265:2223\u20132230","journal-title":"J Biol Chem"},{"key":"1248_CR3","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1056\/NEJM198607313150506","volume":"315","author":"SF Berkovic","year":"1986","unstructured":"Berkovic SF, Andermann F, Carpenter S, Wolfe LS (1986) Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 315:296\u2013305","journal-title":"N Engl J Med"},{"key":"1248_CR4","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/nrneurol.2011.81","volume":"7","author":"CG Bonnemann","year":"2011","unstructured":"Bonnemann CG (2011) The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 7:379\u2013390","journal-title":"Nat Rev Neurol"},{"key":"1248_CR5","doi-asserted-by":"crossref","first-page":"7516","DOI":"10.1073\/pnas.121027598","volume":"98","author":"O Camacho Vanegas","year":"2001","unstructured":"Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G (2001) Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 98:7516\u20137521","journal-title":"Proc Natl Acad Sci USA"},{"key":"1248_CR6","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/S1474-4422(04)00880-4","volume":"3","author":"JN Caviness","year":"2004","unstructured":"Caviness JN, Brown P (2004) Myoclonus: current concepts and recent advances. Lancet Neurol 3:598\u2013607","journal-title":"Lancet Neurol"},{"key":"1248_CR7","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/nn.2240","volume":"12","author":"JS Cheng","year":"2009","unstructured":"Cheng JS, Dubal DB, Kim DH, Legleiter J, Cheng IH, Yu GQ, Tesseur I, Wyss-Coray T, Bonaldo P, Mucke L (2009) Collagen VI protects neurons against Abeta toxicity. Nat Neurosci 12:119\u2013121","journal-title":"Nat Neurosci"},{"key":"1248_CR8","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.neuroscience.2011.03.057","volume":"183","author":"IH Cheng","year":"2011","unstructured":"Cheng IH, Lin YC, Hwang E, Huang HT, Chang WH, Liu YL, Chao CY (2011) Collagen VI protects against neuronal apoptosis elicited by ultraviolet irradiation via an Akt\/phosphatidylinositol 3-kinase signaling pathway. Neuroscience 183:178\u2013188","journal-title":"Neuroscience"},{"key":"1248_CR9","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.ajhg.2011.04.011","volume":"88","author":"MA Corbett","year":"2011","unstructured":"Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O\u2019Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF (2011) A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet 88:657\u2013663","journal-title":"Am J Hum Genet"},{"key":"1248_CR10","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491\u2013498","journal-title":"Nat Genet"},{"key":"1248_CR11","unstructured":"Exome Variant Server (2012) NHLBI Exome Sequencing Project (ESP), Seattle, WA. URL: http:\/\/evs.gs.washington.edu\/EVS\/"},{"key":"1248_CR12","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.ceb.2008.05.003","volume":"20","author":"MA Fox","year":"2008","unstructured":"Fox MA (2008) Novel roles for collagens in wiring the vertebrate nervous system. Curr Opin Cell Biol 20:508\u2013513","journal-title":"Curr Opin Cell Biol"},{"key":"1248_CR13","doi-asserted-by":"crossref","first-page":"e1002344","DOI":"10.1371\/journal.pgen.1002344","volume":"7","author":"TR Grossman","year":"2011","unstructured":"Grossman TR, Gamliel A, Wessells RJ, Taghli-Lamallem O, Jepsen K, Ocorr K, Korenberg JR, Peterson KL, Rosenfeld MG, Bodmer R, Bier E (2011) Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects. PLoS Genet 7:e1002344","journal-title":"PLoS Genet"},{"key":"1248_CR14","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1007\/s00018-008-8561-9","volume":"66","author":"T Hubert","year":"2009","unstructured":"Hubert T, Grimal S, Carroll P, Fichard-Carroll A (2009) Collagens in the developing and diseased nervous system. Cell Mol Life Sci 66:1223\u20131238","journal-title":"Cell Mol Life Sci"},{"issue":"Pt 4","key":"1248_CR15","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1093\/brain\/122.4.649","volume":"122","author":"GJ Jobsis","year":"1999","unstructured":"Jobsis GJ, Boers JM, Barth PG, de Visser M (1999) Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 122(Pt 4):649\u2013655","journal-title":"Brain"},{"key":"1248_CR16","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/sj.ejhg.5201723","volume":"15","author":"T Joensuu","year":"2007","unstructured":"Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE (2007) Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur J Hum Genet 15:185\u2013193","journal-title":"Eur J Hum Genet"},{"key":"1248_CR17","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.braindev.2007.04.006","volume":"29","author":"HS Kim","year":"2007","unstructured":"Kim HS, Yim SV, Jung KH, Zheng LT, Kim YH, Lee KH, Chung SY, Rha HK (2007) Altered DNA copy number in patients with different seizure disorder type: by array-CGH. Brain Dev 29:639\u2013643","journal-title":"Brain Dev"},{"key":"1248_CR18","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/(SICI)1097-0177(199803)211:3<248::AID-AJA6>3.0.CO;2-H","volume":"211","author":"SE Klewer","year":"1998","unstructured":"Klewer SE, Krob SL, Kolker SJ, Kitten GT (1998) Expression of type VI collagen in the developing mouse heart. Dev Dyn 211:248\u2013255","journal-title":"Dev Dyn"},{"key":"1248_CR19","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3389\/fgene.2012.00075","volume":"3","author":"CE Krebs","year":"2012","unstructured":"Krebs CE, Paisan-Ruiz C (2012) The use of next-generation sequencing in movement disorders. Front Genet 3:75","journal-title":"Front Genet"},{"key":"1248_CR20","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754\u20131760","journal-title":"Bioinformatics"},{"key":"1248_CR21","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","volume":"25","author":"KJ Livak","year":"2001","unstructured":"Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25:402\u2013408","journal-title":"Methods"},{"key":"1248_CR22","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1093\/bioinformatics\/bts032","volume":"28","author":"V Makarov","year":"2011","unstructured":"Makarov V, O\u2019Grady T, Cai G, Lihm J, Buxbaum JD, Yoon S (2011) AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Bioinformatics 28:724\u2013725","journal-title":"Bioinformatics"},{"key":"1248_CR23","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/s00439-011-1086-6","volume":"131","author":"JF Marti-Masso","year":"2012","unstructured":"Marti-Masso JF, Ruiz-Martinez J, Makarov V, Lopez de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisan-Ruiz C (2012) Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Hum Genet 131:435\u2013442","journal-title":"Hum Genet"},{"key":"1248_CR24","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1212\/WNL.58.9.1354","volume":"58","author":"E Mercuri","year":"2002","unstructured":"Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F (2002) Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology 58:1354\u20131359","journal-title":"Neurology"},{"key":"1248_CR25","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1212\/01.wnl.0000327611.01687.5e","volume":"71","author":"L Merlini","year":"2008","unstructured":"Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P (2008) Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 71:1245\u20131253","journal-title":"Neurology"},{"key":"1248_CR26","doi-asserted-by":"crossref","first-page":"20033","DOI":"10.1016\/S0021-9258(19)47214-1","volume":"264","author":"I Nishimura","year":"1989","unstructured":"Nishimura I, Muragaki Y, Olsen BR (1989) Tissue-specific forms of type IX collagen-proteoglycan arise from the use of two widely separated promoters. J Biol Chem 264:20033\u201320041","journal-title":"J Biol Chem"},{"key":"1248_CR27","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1002\/ajmg.b.30929","volume":"150B","author":"C Paisan-Ruiz","year":"2009","unstructured":"Paisan-Ruiz C, Scopes G, Lee P, Houlden H (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder. Am J Med Genet B Neuropsychiatr Genet 150B:993\u2013997","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"1248_CR28","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","volume":"276","author":"MH Polymeropoulos","year":"1997","unstructured":"Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson\u2019s disease. Science 276:2045\u20132047","journal-title":"Science"},{"key":"1248_CR29","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559\u2013575","journal-title":"Am J Hum Genet"},{"key":"1248_CR30","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","volume":"26","author":"AR Quinlan","year":"2010","unstructured":"Quinlan AR, Hall IM (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26:841\u2013842","journal-title":"Bioinformatics"},{"issue":"Suppl 5","key":"1248_CR31","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1528-1167.2009.02117.x","volume":"50","author":"N Ramachandran","year":"2009","unstructured":"Ramachandran N, Girard JM, Turnbull J, Minassian BA (2009) The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 50(Suppl 5):29\u201336","journal-title":"Epilepsia"},{"key":"1248_CR32","doi-asserted-by":"crossref","first-page":"3617","DOI":"10.1093\/hmg\/ddn256","volume":"17","author":"B Royer-Zemmour","year":"2008","unstructured":"Royer-Zemmour B, Ponsole-Lenfant M, Gara H, Roll P, Leveque C, Massacrier A, Ferracci G, Cillario J, Robaglia-Schlupp A, Vincentelli R, Cau P, Szepetowski P (2008) Epileptic and developmental disorders of the speech cortex: ligand\/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. Hum Mol Genet 17:3617\u20133630","journal-title":"Hum Mol Genet"},{"key":"1248_CR33","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1111\/j.1528-1167.2011.03307.x","volume":"52","author":"G Rubboli","year":"2011","unstructured":"Rubboli G, Franceschetti S, Berkovic SF, Canafoglia L, Gambardella A, Dibbens LM, Riguzzi P, Campieri C, Magaudda A, Tassinari CA, Michelucci R (2011) Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. Epilepsia 52:2356\u20132363","journal-title":"Epilepsia"},{"key":"1248_CR34","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1111\/j.1432-1033.1994.tb19040.x","volume":"223","author":"B Saitta","year":"1994","unstructured":"Saitta B, Chu ML (1994) Two promoters control the transcription of the human alpha 2(VI) collagen gene. Eur J Biochem 223:675\u2013682","journal-title":"Eur J Biochem"},{"key":"1248_CR35","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S1474-4422(05)70043-0","volume":"4","author":"A Shahwan","year":"2005","unstructured":"Shahwan A, Farrell M, Delanty N (2005) Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 4:239\u2013248","journal-title":"Lancet Neurol"},{"key":"1248_CR36","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1083\/jcb.200705127","volume":"178","author":"M Suelves","year":"2007","unstructured":"Suelves M, Vidal B, Serrano AL, Tjwa M, Roma J, Lopez-Alemany R, Luttun A, de Lagran MM, Diaz-Ramos A, Jardi M, Roig M, Dierssen M, Dewerchin M, Carmeliet P, Munoz-Canoves P (2007) uPA deficiency exacerbates muscular dystrophy in MDX mice. J Cell Biol 178:1039\u20131051","journal-title":"J Cell Biol"},{"key":"1248_CR37","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/humu.21445","volume":"32","author":"J Thusberg","year":"2011","unstructured":"Thusberg J, Olatubosun A, Vihinen M (2011) Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32:358\u2013368","journal-title":"Hum Mutat"},{"key":"1248_CR38","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1177\/08830738060210021601","volume":"21","author":"CY Tsao","year":"2006","unstructured":"Tsao CY, Mendell JR (2006) Coexisting muscular dystrophies and epilepsy in children. J Child Neurol 21:148\u2013150","journal-title":"J Child Neurol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-012-1248-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-012-1248-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-012-1248-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T01:19:44Z","timestamp":1643591984000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-012-1248-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,9]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["1248"],"URL":"https:\/\/doi.org\/10.1007\/s00439-012-1248-1","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,9]]}}}