Literature DB >> 15742102

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

Giovanni Coppola1, Chiara Criscuolo, Giuseppe De Michele, Salvatore Striano, Fabrizio Barbieri, Pasquale Striano, Anna Perretti, Lucio Santoro, Vincenzo Brescia Morra, Francesco Saccà, Valentina Scarano, Adamo P D'Adamo, Sandro Banfi, Paolo Gasparini, Filippo M Santorelli, Anna E Lehesjoki, Alessandro Filla.   

Abstract

We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.

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Year:  2005        PMID： 15742102     DOI： 10.1007/s00415-005-0766-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  9 in total

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Journal:  Brain       Date:  1960-12       Impact factor: 13.501

3.  Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.

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Review 4.  Progressive myoclonus epilepsies: specific causes and diagnosis.

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Journal:  N Engl J Med       Date:  1986-07-31       Impact factor: 91.245

5.  Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

Authors:  A E Lehesjoki; M Koskiniemi; P Sistonen; J Miao; J Hästbacka; R Norio; A de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  1991-05-01       Impact factor: 11.205

6.  Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

Authors:  M D Lalioti; H S Scott; C Buresi; C Rossier; A Bottani; M A Morris; A Malafosse; S E Antonarakis
Journal:  Nature       Date:  1997-04-24       Impact factor: 49.962

7.  Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

Authors:  B A Minassian; J R Lee; J A Herbrick; J Huizenga; S Soder; A J Mungall; I Dunham; R Gardner; C Y Fong; S Carpenter; L Jardim; P Satishchandra; E Andermann; O C Snead; I Lopes-Cendes; L C Tsui; A V Delgado-Escueta; G A Rouleau; S W Scherer
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

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

9.  Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Authors:  Elayne M Chan; Edwin J Young; Leonarda Ianzano; Iulia Munteanu; Xiaochu Zhao; Constantine C Christopoulos; Giuliano Avanzini; Maurizio Elia; Cameron A Ackerley; Nebojsa J Jovic; Saeed Bohlega; Eva Andermann; Guy A Rouleau; Antonio V Delgado-Escueta; Berge A Minassian; Stephen W Scherer
Journal:  Nat Genet       Date:  2003-09-07       Impact factor: 38.330
  9 in total
  2 in total

1.  Progressive myoclonic epilepsies: definitive and still undetermined causes.

Authors:  Silvana Franceschetti; Roberto Michelucci; Laura Canafoglia; Pasquale Striano; Antonio Gambardella; Adriana Magaudda; Paolo Tinuper; Angela La Neve; Edoardo Ferlazzo; Giuseppe Gobbi; Anna Teresa Giallonardo; Giuseppe Capovilla; Elisa Visani; Ferruccio Panzica; Giuliano Avanzini; Carlo Alberto Tassinari; Amedeo Bianchi; Federico Zara
Journal:  Neurology       Date:  2014-01-02       Impact factor: 9.910

2.  Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.

Authors:  Laura C Bott; Mitra Forouhan; Maria Lieto; Ambre J Sala; Ruth Ellerington; Janel O Johnson; Alfina A Speciale; Chiara Criscuolo; Alessandro Filla; David Chitayat; Ebba Alkhunaizi; Patrick Shannon; Andrea H Nemeth; Francesco Angelucci; Wooi Fang Lim; Pasquale Striano; Federico Zara; Ingo Helbig; Mikko Muona; Carolina Courage; Anna-Elina Lehesjoki; Samuel F Berkovic; Kenneth H Fischbeck; Francesco Brancati; Richard I Morimoto; Matthew J A Wood; Carlo Rinaldi
Journal:  Brain Commun       Date:  2021-10-18
  2 in total

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