Literature DB >> 8232963

Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs.

A E Lehesjoki1, R Eldridge, J Eldridge, B J Wilder, A de la Chapelle.   

Abstract

We describe clinical and molecular genetic data on a family from the United States in which four of five sibs are affected with progressive myoclonus epilepsy of Unverricht-Lundborg type. The gene for this disorder (EPM1) has previously been mapped to the distal region of chromosome 21. Molecular genetic results suggest that the disease gene in this family is linked to the same region of chromosome 21. Crossover events in the family help refine the gene localization by placing EPM1 between loci CBS and D21S112.

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Year:  1993        PMID： 8232963     DOI： 10.1212/wnl.43.11.2384

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  5 in total

1.  Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

Authors:  K Virtaneva; J Miao; A L Träskelin; N Stone; J A Warrington; J Weissenbach; R M Myers; D R Cox; P Sistonen; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

Authors:  M D Lalioti; M Mirotsou; C Buresi; M C Peitsch; C Rossier; R Ouazzani; M Baldy-Moulinier; A Bottani; A Malafosse; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

3.  Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo.

Authors:  M Koskiniemi; B Van Vleymen; L Hakamies; S Lamusuo; J Taalas
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-03       Impact factor: 10.154

4.  PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus.

Authors:  A E Lehesjoki; C A Tassinari; G Avanzini; R Michelucci; S Franceschetti; A Antonelli; G Rubboli; A de la Chapelle
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

Review 5.  N-acetylcysteine (NAC) in neurological disorders: mechanisms of action and therapeutic opportunities.

Authors:  Reza Bavarsad Shahripour; Mark R Harrigan; Andrei V Alexandrov
Journal:  Brain Behav       Date:  2014-01-13       Impact factor: 2.708
  5 in total

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