Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathyMELAS with A3243G mutation presenting with occipital status epilepticus.Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.Metabolic causes of epileptic encephalopathyPotentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeGenetic and biologic classification of infantile spasms.Mitochondrial disease and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Seizure semiology and EEG findings in mitochondrial diseases.Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.Understanding the Epilepsy in POLG Related DiseasePatient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.Recent perspectives of pediatric mitochondrial diseases.Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF).Mitochondrial diseases caused by mtDNA mutations: a mini-review
P2860
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P2860
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on February 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
@en
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
@nl
type
label
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
@en
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
@nl
prefLabel
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
@en
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
@nl
P2093
P356
P1433
P1476
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
@en
P2093
D S Khurana
E F Hobdell
H H Hardison
I Valencia
J J Melvin
L Salganicoff
W D Grover
P356
10.1055/S-2008-1076737
P577
2008-02-01T00:00:00Z