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Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

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dc.contributor.author Lohi H.
dc.contributor.author Turnbull J.
dc.contributor.author Zhao X.C.
dc.contributor.author Pullenayegum S.
dc.contributor.author Ianzano L.
dc.contributor.author Yahyaoui M.
dc.contributor.author Mikati M.A.
dc.contributor.author Franceschetti S.
dc.contributor.author Zara F.
dc.contributor.author Minassian B.A.
dc.contributor.editor
dc.date 2007
dc.date.accessioned 2017-10-05T16:01:30Z
dc.date.available 2017-10-05T16:01:30Z
dc.date.issued 2007
dc.identifier 10.1212/01.wnl.0000258561.02248.2f
dc.identifier.isbn
dc.identifier.issn 00283878
dc.identifier.uri http://hdl.handle.net/10938/19559
dc.description.abstract Lafora disease (LD) can be diagnosed by skin biopsy, but this approach has both false negatives and false positives. Biopsies of other organs can also be diagnostic but are more invasive. Genetic diagnosis is also possible but can be inconclusive, for example, in patients with only one heterozygous EPM2A mutation and patients with apparently homozygous EPM2B mutations where one parent is not a carrier of the mutation. We sought to identify occult mutations and clarify the genotypes and confirm the diagnosis of LD in patients with apparent nonrecessive disease inheritance. We used single nucleotide polymorphism, quantitative PCR, and fluorescent in situ hybridization analyses. We identified large EPM2A and EPM2B deletions undetectable by PCR in the heterozygous state and describe simple methods for their routine detection. We report a coding sequence change in several patients and describe why the pathogenic role of this change remains unclear. We confirm that adult-onset LD is due to EPM2B mutations. Finally, we report major intrafamilial heterogeneity in age at onset in LD. ©2007AAN Enterprises, Inc.
dc.format.extent
dc.format.extent Pages: (996-1001)
dc.language English
dc.publisher PHILADELPHIA
dc.relation.ispartof Publication Name: Neurology; Publication Year: 2007; Volume: 68; no. 13; Pages: (996-1001);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other GENBANK: AF084535, AY324850
dc.title Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls
dc.type Review
dc.contributor.affiliation Lohi, H., Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ont., Canada, Folkhälsan Institute of Genetics, Program in Molecular Medicine, University of Helsinki, Finland
dc.contributor.affiliation Turnbull, J., Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ont., Canada
dc.contributor.affiliation Zhao, X.C., Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ont., Canada
dc.contributor.affiliation Pullenayegum, S., Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ont., Canada
dc.contributor.affiliation Ianzano, L., Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ont., Canada, Laboratory of Medical Genetics, Mauro Baschirotto Institute for Rare Diseases, Vicenza, Italy, Department of Clinical Neurophysiology, National Neurologic Institute C. Besta, Milan, Italy
dc.contributor.affiliation Yahyaoui, M., Neurology Service, Specialties Hospital, Rabat, Morocco
dc.contributor.affiliation Mikati, M.A., Department of Pediatrics, Adult and Pediatric Epilepsy Program, American University of Beirut Medical Center, Lebanon
dc.contributor.affiliation Franceschetti, S., Department of Clinical Neurophysiology, National Neurologic Institute C. Besta, Milan, Italy
dc.contributor.affiliation Zara, F., Institute of Neurology, University Magna Graecia, Cantanzaro, Italy
dc.contributor.affiliation Minassian, B.A., Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ont., Canada, Program in Genetics and Genomic Biology, Division of Neurology, Hospital for Sick Children, 555 University Ave., Toronto, Ont. M5G 1X8, Canada
dc.contributor.authorAddress Minassian, B.A.; Program in Genetics and Genomic Biology, Division of Neurology, Hospital for Sick Children, 555 University Ave., Toronto, Ont. M5G 1X8, Canada; email: bminass@sickkids.ca
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Pediatrics and Adolescent Medicine;
dc.contributor.authorDepartment Pediatrics and Adolescent Medicine
dc.contributor.authorDivision
dc.contributor.authorEmail bminass@sickkids.ca
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Lohi, H
dc.contributor.authorInitials Turnbull, J
dc.contributor.authorInitials Zhao, XC
dc.contributor.authorInitials Pullenayegum, S
dc.contributor.authorInitials Ianzano, L
dc.contributor.authorInitials Yahyaoui, M
dc.contributor.authorInitials Mikati, MA
dc.contributor.authorInitials Franceschetti, S
dc.contributor.authorInitials Zara, F
dc.contributor.authorInitials Minassian, BA
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Minassian, BA (reprint author), Hosp Sick Children, Program Genet and Genom Biol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 21
dc.description.citedTotWOSCount 21
dc.description.citedWOSCount 19
dc.format.extentCount 6
dc.identifier.articleNo
dc.identifier.coden NEURA
dc.identifier.pubmedID 17389303
dc.identifier.scopusID 34147103474
dc.identifier.url
dc.publisher.address 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
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dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Neurology
dc.relation.ispartOfIssue 13
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Neurology
dc.relation.ispartofPubTitleAbbr Neurology
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 68
dc.source.ID WOS:000245211600006
dc.type.publication Journal
dc.subject.otherAuthKeyword
dc.subject.otherChemCAS Carrier Proteins
dc.subject.otherChemCAS EPM2A protein, human, EC 3.1.3.48.
dc.subject.otherChemCAS Genetic Markers
dc.subject.otherChemCAS NHLRC1 protein, human
dc.subject.otherChemCAS Protein-Tyrosine-Phosphatase, EC 3.1.3.48
dc.subject.otherIndex fluorescence in situ hybridization
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genotype
dc.subject.otherIndex heterozygosity
dc.subject.otherIndex heterozygote detection
dc.subject.otherIndex human
dc.subject.otherIndex myoclonus epilepsy
dc.subject.otherIndex nucleotide sequence
dc.subject.otherIndex parent
dc.subject.otherIndex phenotype
dc.subject.otherIndex polymerase chain reaction
dc.subject.otherIndex priority journal
dc.subject.otherIndex quantitative analysis
dc.subject.otherIndex review
dc.subject.otherIndex single nucleotide polymorphism
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Adult
dc.subject.otherIndex Age of Onset
dc.subject.otherIndex Base Sequence
dc.subject.otherIndex Carrier Proteins
dc.subject.otherIndex Chromosome Mapping
dc.subject.otherIndex Diagnostic Errors
dc.subject.otherIndex DNA Mutational Analysis
dc.subject.otherIndex Female
dc.subject.otherIndex Genetic Markers
dc.subject.otherIndex Genetic Predisposition to Disease
dc.subject.otherIndex Genotype
dc.subject.otherIndex Heterozygote
dc.subject.otherIndex Humans
dc.subject.otherIndex In Situ Hybridization, Fluorescence
dc.subject.otherIndex Lafora Disease
dc.subject.otherIndex Linkage (Genetics)
dc.subject.otherIndex Male
dc.subject.otherIndex Mutation
dc.subject.otherIndex Pedigree
dc.subject.otherIndex Polymerase Chain Reaction
dc.subject.otherIndex Polymorphism, Single Nucleotide
dc.subject.otherIndex Protein-Tyrosine-Phosphatase
dc.subject.otherKeywordPlus PROGRESSIVE MYOCLONUS EPILEPSY
dc.subject.otherKeywordPlus CARBOHYDRATE-BINDING DOMAIN
dc.subject.otherKeywordPlus LATE-ONSET
dc.subject.otherKeywordPlus SKIN BIOPSY
dc.subject.otherKeywordPlus EPM2A GENE
dc.subject.otherKeywordPlus MUTATIONS
dc.subject.otherKeywordPlus PHOSPHATASE
dc.subject.otherKeywordPlus GLYCOGEN
dc.subject.otherKeywordPlus POLYGLUCOSANS
dc.subject.otherKeywordPlus SPECTRUM
dc.subject.otherWOS Clinical Neurology


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