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Article: Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
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TitleMutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
 
AuthorsMinassian, BA8 7
Lee Jeffrey, R7
Herbrick, JA7
Huizenga, J7
Soder, S7
Mungall, AJ5
Dunham, I5
Gardner, R1
Fong, CYG2
Carpenter, S7
Jardim, L6
Satishchandra, P3
Andermann, E9
Carter Snead III, O8
LopesCendes, I9 4
Tsui, LC7
DelgadoEscueta, AV2
Rouleau, GA9 4
Scherer, SW7
 
Issue Date1998
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
CitationNature Genetics, 1998, v. 20 n. 2, p. 171-174 [How to Cite?]
DOI: http://dx.doi.org/10.1038/2470
 
AbstractLafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms1,2. With few exceptions, patients follow a homogeneous clinical course despite the existence of genetic heterogeneity3. Biopsy of various tissues, including brain, revealed characteristic polyglucosan inclusions called Lafora bodies4-8, which suggested LD might be a generalized storage disease6,9. Using a positional cloning approach, we have identified at chromosome 6q24 a novel gene, EPM2A, that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP). mRNA transcripts representing alternatively spliced forms of EPM2A were found in every tissue examined, including brain. Six distinct DNA sequence variations in EPM2A in nine families, and one homozygous microdeletion in another family, have been found to cosegregate with LD. These mutations are predicted to cause deleterious effects in the putative protein product, named laforin, resulting in LD.
 
ISSN1061-4036
2012 Impact Factor: 35.209
2012 SCImago Journal Rankings: 20.421
 
DOIhttp://dx.doi.org/10.1038/2470
 
ISI Accession Number IDWOS:000076231300019
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorMinassian, BA
 
dc.contributor.authorLee Jeffrey, R
 
dc.contributor.authorHerbrick, JA
 
dc.contributor.authorHuizenga, J
 
dc.contributor.authorSoder, S
 
dc.contributor.authorMungall, AJ
 
dc.contributor.authorDunham, I
 
dc.contributor.authorGardner, R
 
dc.contributor.authorFong, CYG
 
dc.contributor.authorCarpenter, S
 
dc.contributor.authorJardim, L
 
dc.contributor.authorSatishchandra, P
 
dc.contributor.authorAndermann, E
 
dc.contributor.authorCarter Snead III, O
 
dc.contributor.authorLopesCendes, I
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorDelgadoEscueta, AV
 
dc.contributor.authorRouleau, GA
 
dc.contributor.authorScherer, SW
 
dc.date.accessioned2007-09-12T03:51:47Z
 
dc.date.available2007-09-12T03:51:47Z
 
dc.date.issued1998
 
dc.description.abstractLafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms1,2. With few exceptions, patients follow a homogeneous clinical course despite the existence of genetic heterogeneity3. Biopsy of various tissues, including brain, revealed characteristic polyglucosan inclusions called Lafora bodies4-8, which suggested LD might be a generalized storage disease6,9. Using a positional cloning approach, we have identified at chromosome 6q24 a novel gene, EPM2A, that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP). mRNA transcripts representing alternatively spliced forms of EPM2A were found in every tissue examined, including brain. Six distinct DNA sequence variations in EPM2A in nine families, and one homozygous microdeletion in another family, have been found to cosegregate with LD. These mutations are predicted to cause deleterious effects in the putative protein product, named laforin, resulting in LD.
 
dc.description.natureabstract
 
dc.identifier.citationNature Genetics, 1998, v. 20 n. 2, p. 171-174 [How to Cite?]
DOI: http://dx.doi.org/10.1038/2470
 
dc.identifier.citeulike3892052
 
dc.identifier.doihttp://dx.doi.org/10.1038/2470
 
dc.identifier.epage174
 
dc.identifier.isiWOS:000076231300019
 
dc.identifier.issn1061-4036
2012 Impact Factor: 35.209
2012 SCImago Journal Rankings: 20.421
 
dc.identifier.issue2
 
dc.identifier.openurl
 
dc.identifier.pmid9771710
 
dc.identifier.scopuseid_2-s2.0-17344362307
 
dc.identifier.spage171
 
dc.identifier.urihttp://hdl.handle.net/10722/44343
 
dc.identifier.volume20
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofNature Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshChromosomes, human, pair 6
 
dc.subject.meshEpilepsies, myoclonic - enzymology - genetics
 
dc.subject.meshMutation
 
dc.subject.meshProtein-tyrosine-phosphatase - genetics
 
dc.subject.meshRna, messenger - metabolism
 
dc.titleMutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
 
dc.typeArticle
 
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Author Affiliations
  1. Salisbury District Hospital
  2. David Geffen School of Medicine at UCLA
  3. National Institute of Mental Health and Neuro Sciences
  4. Montreal General Hospital
  5. Wellcome Trust Sanger Institute
  6. Hospital de Clinicas de Porto Alegre
  7. University of Toronto
  8. Hospital for Sick Children University of Toronto
  9. McGill University