Mitochondrial diseases and epilepsy (Q38040447)

27 August 2017

Mitochondrial diseases and epilepsy (English)

1 reference

27 August 2017

Laurence A Bindoff

1

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author name string

Bernt A Engelsen

series ordinal

2

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27 August 2017

1 September 2012

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27 August 2017

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27 August 2017

53 Suppl 4

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27 August 2017

92-97

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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

27 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Epileptic phenotypes associated with mitochondrial disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Defects in mitochondrial DNA replication and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mitochondrial disorders in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Epileptic phenotypes in children with respiratory chain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Pathogenic mitochondrial DNA mutations are common in the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Levetiracetam: antiepileptic properties and protective effects on mitochondrial dysfunction in experimental status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mitochondrial DNA polymerase-gamma and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Slowly progressive spread of the stroke-like lesions in MELAS

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mitochondria and neuronal activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Partial inhibition of complex I activity increases Ca-independent glutamate release rates from depolarized synaptosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

The ketogenic diet and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

The role of mitochondria in epileptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Epileptic seizures in infants and children with mitochondrial diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

The glutamate-glutamine cycle is not stoichiometric: fates of glutamate in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

POLG mutations in Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mitochondrial disease and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

An enhanced MITOMAP with a global mtDNA mutational phylogeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Prevalence of mitochondrial DNA disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Mitochondrial DNA mutations affect calcium handling in differentiated neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

Brief Communication Complex Partial Status Epilepticus in Late-Onset MELAS

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03618.X

10.1111/J.1528-1167.2012.03618.X

21 January 2018

Identifiers

DOI

1 reference

27 August 2017

1 reference

PubMed ID

22946726