A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

Serratosa, J M; Gómez-Garre, P; Gallardo, M E; Anta, B; de Bernabé, D B; Lindhout, D; Augustijn, P B; Tassinari, C A; Malafosse, R M; Topcu, M; Grid, D; Dravet, C; Berkovic, S F; de Córdoba, S R

Serratosa, J M; Gómez-Garre, P; Gallardo, M E; Anta, B; de Bernabé, D B; Lindhout, D; Augustijn, P B; Tassinari, C A; Malafosse, R M; Topcu, M; Grid, D; Dravet, C; Berkovic, S F; de Córdoba, S R.

Affiliation

Serratosa JM; Laboratorio y Servicio de Neurología and Unidad de Patología Molecular, Fundación Jiménez Díaz,Avenida Reyes Católicos 2, 28040 Madrid, Spain. serratosa@jet.es

Hum Mol Genet ; 8(2): 345-52, 1999 Feb.

Article in En | MEDLINE | ID: mdl-9931343

Subject(s)

Epilepsies, Myoclonic/genetics; Genes/genetics; Protein Tyrosine Phosphatases/genetics; Amino Acid Sequence; Base Sequence; Chromosomes, Human, Pair 6/genetics; DNA/analysis; DNA/genetics; DNA Mutational Analysis; DNA, Complementary/chemistry; DNA, Complementary/genetics; Epilepsies, Myoclonic/enzymology; Epilepsies, Myoclonic/pathology; Female; Humans; Male; Microsatellite Repeats; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Alignment; Sequence Homology, Amino Acid

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Collection: 01-internacional Database: MEDLINE Main subject: Protein Tyrosine Phosphatases / Epilepsies, Myoclonic / Genes Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 1999 Type: Article Affiliation country: Spain

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