Literature DB >> 20593193

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.

Luis Felipe Mendonça de Siqueira1.   

Abstract

The progressive myoclonic epilepsies (PME) are a rare group of inherited neurodegenerative diseases with debilitating evolution, resistance to treatment and poor prognosis. However, advances in molecular genetics have enabled better understanding of the pathogenesis of these diseases, bringing hope for improved treatment options in the future. This manuscript is an overview of the clinical and molecular findings in patients with PME. Furthermore, it describes therapeutic approaches that are currently recommended in the literature.

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Year:  2010        PMID： 20593193     DOI： 10.1007/s00415-010-5641-1

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


  61 in total

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Review 2.  The cystatins: protein inhibitors of cysteine proteinases.

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Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

5.  Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

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Journal:  J Clin Invest       Date:  1993-12       Impact factor: 14.808

6.  A variant of Jansky-Bielschowsky disease.

Authors:  P Santavuori; J Rapola; K Sainio; C Raitta
Journal:  Neuropediatrics       Date:  1982-08       Impact factor: 1.947

7.  Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open-label study.

Authors:  David G Vossler; Joan A Conry; Jerome V Murphy
Journal:  Epileptic Disord       Date:  2008-03       Impact factor: 1.819

8.  Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Authors:  S Nagafuchi; H Yanagisawa; K Sato; T Shirayama; E Ohsaki; M Bundo; T Takeda; K Tadokoro; I Kondo; N Murayama
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

9.  Valproate and clonazepam in the treatment of severe progressive myoclonus epilepsy.

Authors:  M Iivanainen; J J Himberg
Journal:  Arch Neurol       Date:  1982-04

Review 10.  The autosomal recessively inherited progressive myoclonus epilepsies and their genes.

Authors:  Nivetha Ramachandran; Jean-Marie Girard; Julie Turnbull; Berge A Minassian
Journal:  Epilepsia       Date:  2009-05       Impact factor: 5.864
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  8 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

Review 2.  Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Authors:  Susan L Cotman; Amel Karaa; John F Staropoli; Katherine B Sims
Journal:  Curr Neurol Neurosci Rep       Date:  2013-08       Impact factor: 5.081

Review 3.  The molecular biology of genetic-based epilepsies.

Authors:  Hao Deng; Xiaofei Xiu; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-08-10       Impact factor: 5.590

Review 4.  Electroencephalogram of age-dependent epileptic encephalopathies in infancy and early childhood.

Authors:  Lily C Wong-Kisiel; Katherine Nickels
Journal:  Epilepsy Res Treat       Date:  2013-08-19

5.  Vagus nerve stimulation in Lafora body disease.

Authors:  Sanja Hajnsek; Zeljka Petelin Gadze; Fran Borovecki; Sibila Nankovic; Goran Mrak; Kristina Gotovac; Vlatko Sulentic; Ivana Kovacevic; Andreja Bujan Kovac
Journal:  Epilepsy Behav Case Rep       Date:  2013-09-27

6.  Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

Authors:  Cyril Mignot; Emmanuelle Apartis; Alexandra Durr; Charles Marques Lourenço; Perrine Charles; David Devos; Caroline Moreau; Pascale de Lonlay; Nathalie Drouot; Lydie Burglen; Nadine Kempf; Elsa Nourisson; Sandra Chantot-Bastaraud; Anne-Sophie Lebre; Marlène Rio; Yves Chaix; Eric Bieth; Emmanuel Roze; Isabelle Bonnet; Sandrine Canaple; Coralie Rastel; Alexis Brice; Agnès Rötig; Isabelle Desguerre; Christine Tranchant; Michel Koenig; Mathieu Anheim
Journal:  Orphanet J Rare Dis       Date:  2013-10-28       Impact factor: 4.123

7.  A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Authors:  Nami Araya; Yukitoshi Takahashi; Masayuki Shimono; Tomofumi Fukuda; Mitsuhiro Kato; Mitsuko Nakashima; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Hum Genome Var       Date:  2018-07-12

8.  Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Authors:  Daan M Panneman; Saskia B Wortmann; Charlotte A Haaxma; Peter M van Hasselt; Nicole I Wolf; Yvonne Hendriks; Benno Küsters; Sjenet van Emst-de Vries; Els van de Westerlo; Werner J H Koopman; Liesbeth Wintjes; Frans van den Brandt; Maaike de Vries; Dirk J Lefeber; Jan A M Smeitink; Richard J Rodenburg
Journal:  Clin Genet       Date:  2020-01-30       Impact factor: 4.438
  8 in total

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