Literature DB >> 1349105

Identical genetic locus for Baltic and Mediterranean myoclonus.

A Malafosse1, A E Lehesjoki, P Genton, P Labauge, G Durand, C A Tassinari, C Dravet, R Michelucci, A de la Chapelle.   

Abstract

Genetic linkage analysis shows that Baltic and Mediterranean myoclonus, two forms of progressive myoclonus epilepsy, are closely linked to marker D21S113 on the long arm of chromosome 21. Baltic and Mediterranean myoclonus are most probably due to mutations of the same gene.

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Year:  1992        PMID： 1349105     DOI： 10.1016/0140-6736(92)90667-r

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  9 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

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

Review 3.  Myoclonus and epilepsies.

Authors:  N Fejerman
Journal:  Indian J Pediatr       Date:  1997 Sep-Oct       Impact factor: 1.967

Review 4.  Disease gene mapping in isolated human populations: the example of Finland.

Authors:  A de la Chapelle
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

5.  A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

Authors:  M D Lalioti; H S Scott; P Genton; D Grid; R Ouazzani; A M'Rabet; S Ibrahim; R Gouider; C Dravet; T Chkili; A Bottani; C Buresi; A Malafosse; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

6.  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

7.  Genetic analysis of kifafa, a complex familial seizure disorder.

Authors:  R J Neuman; J M Kwon; L Jilek-Aall; H T Rwiza; J P Rice; P J Goodfellow
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  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 9.  The diagnosis of epilepsies.

Authors:  R A Grünewald; C P Panayiotopoulos
Journal:  J R Coll Physicians Lond       Date:  1996 Mar-Apr
  9 in total

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