Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects (Q36075070)

12 August 2017

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title

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects (English)

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12 August 2017

Amre Shahwan

1

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PubMed ID

15778103

12 August 2017

Michael Farrell

series ordinal

2

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PubMed ID

15778103

12 August 2017

Norman Delanty

series ordinal

3

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12 August 2017

1 April 2005

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12 August 2017

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12 August 2017

4

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12 August 2017

239-248

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12 August 2017

4

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Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

12 August 2017

1 reference

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7 January 2021

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus.

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7 January 2021

Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings.

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7 January 2021

Efficacy of levetiracetam in a patient with Unverricht-Lundborg progressive myoclonic epilepsy

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7 January 2021

Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

1 reference

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7 January 2021

Advances in the genetics of progressive myoclonus epilepsy

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7 January 2021

New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B.

1 reference

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7 January 2021

Valproate and clonazepam in the treatment of severe progressive myoclonus epilepsy

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7 January 2021

Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations.

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7 January 2021

Progressive myoclonus epilepsy treated with zonisamide

1 reference

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7 January 2021

"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin

1 reference

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7 January 2021

Effects of vagus nerve stimulation on progressive myoclonus epilepsy of Unverricht-Lundborg type

1 reference

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7 January 2021

Lafora's disease. Comparison of inclusion bodies in skin and in brain.

1 reference

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7 January 2021

Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations.

1 reference

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7 January 2021

Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy.

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7 January 2021

Longitudinal EEG studies in a kindred with Lafora disease.

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7 January 2021

Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

1 reference

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7 January 2021

Maternally inherited mitochondrial myopathy and myoclonic epilepsy.

1 reference

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7 January 2021

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

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7 January 2021

Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

7 January 2021

Gene shifting: a novel therapy for mitochondrial myopathy.

1 reference

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7 January 2021

Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.

1 reference

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7 January 2021

A dominant form of neuronal ceroid-lipofuscinosis

1 reference

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7 January 2021

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

1 reference

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7 January 2021

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

1 reference

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7 January 2021

A variant of Jansky-Bielschowsky disease

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7 January 2021

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

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7 January 2021

Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

1 reference

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7 January 2021

Physical map of the region containing the gene for Batten disease (CLN3)

1 reference

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7 January 2021

Batten disease: evaluation of CLN3 mutations on protein localization and function

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7 January 2021

Kufs' disease: a critical reappraisal

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7 January 2021

A case of childhood Kufs' disease

1 reference

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7 January 2021

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

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7 January 2021

Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses

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7 January 2021

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease

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7 January 2021

Antioxidant treatment in Spielmeyer-Sjögren's disease

1 reference

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7 January 2021

Feasibility of gene therapy for late neuronal ceroid lipofuscinosis

1 reference

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7 January 2021

Inborn errors of mucopolysaccharide metabolism

1 reference

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7 January 2021

Cross-correction of beta-glucuronidase deficiency by retroviral vector-mediated gene transfer

1 reference

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7 January 2021

Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system

1 reference

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7 January 2021

The cherry-red spot-myoclonus syndrome

1 reference

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7 January 2021

Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome

1 reference

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7 January 2021

Type I sialidosis: a clinical, biochemical and neuroradiological study

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7 January 2021

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis

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7 January 2021

Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex

1 reference

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7 January 2021

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression

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7 January 2021

Molecular pathology of NEU1 gene in sialidosis

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7 January 2021

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

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7 January 2021

Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells

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7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2805%2970043-0

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7 January 2021

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

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7 January 2021

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

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7 January 2021

Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study

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7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

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7 January 2021

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

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7 January 2021

Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.

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7 January 2021

Familial encephalopathy with neuroserpin inclusion bodies

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7 January 2021

Progressive myoclonic epilepsies

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7 January 2021

Disabling erratic myoclonus during lamotrigine therapy with high serum level--report of two cases

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7 January 2021

Unusual side effects of lamotrigine therapy

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7 January 2021

10.1016/S1474-4422(05)70043-0

Identifiers

DOI

1 reference

12 August 2017

1 reference

PubMed ID

15778103