Epileptic phenotypes associated with mitochondrial disorders.
about
Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomicsMELAS with A3243G mutation presenting with occipital status epilepticus.Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.Neuropathology in Drosophila mutants with increased seizure susceptibility.Epilepsy in adults with mitochondrial disease: A cohort study.Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.Metabolic causes of epileptic encephalopathyEpilepsy and inborn errors of metabolism in adults: a diagnostic approach.Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.A review of current applications of mass spectrometry for neuroproteomics in epilepsy.The genetics and pathology of mitochondrial disease.Progressive myoclonic epilepsies: definitive and still undetermined causes.Mitochondrial diseases in childhood: a clinical approach to investigation and management.The neurologic manifestations of mitochondrial disease.Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.The potential role of mitochondrial dysfunction in seizure-associated cell death in the hippocampus and epileptogenesis.Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders.Mitochondrial disease and epilepsy.Mitochondrial diseases and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.The role of reactive species in epileptogenesis and influence of antiepileptic drug therapy on oxidative stressSeizure semiology and EEG findings in mitochondrial diseases.When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?Review: Central nervous system involvement in mitochondrial diseaseAcute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.Leber's hereditary optic neuropathy mutations associated with infantile-onset myoclonic epilepsy.Understanding the Epilepsy in POLG Related DiseasePyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.Iron deficiency in children with mitochondrial disease.Epileptic phenotypes in children with respiratory chain disorders.The role of mitochondria in epilepsy: implications for neurodegenerative diseases.Spasms in children with definite and probable mitochondrial disease.Valproic acid blood genomic expression patterns in children with epilepsy - a pilot study.Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy.Bayesian network and mechanistic hierarchical structure modeling of increased likelihood of developing intractable childhood epilepsy from the combined effect of mtDNA variants, oxidative damage, and copy number.The role of mitochondria in status epilepticus.Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.Acute creatine administration improves mitochondrial membrane potential and protects against pentylenetetrazol-induced seizures.Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation.
P2860
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P2860
Epileptic phenotypes associated with mitochondrial disorders.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Epileptic phenotypes associated with mitochondrial disorders.
@en
Epileptic phenotypes associated with mitochondrial disorders.
@nl
type
label
Epileptic phenotypes associated with mitochondrial disorders.
@en
Epileptic phenotypes associated with mitochondrial disorders.
@nl
prefLabel
Epileptic phenotypes associated with mitochondrial disorders.
@en
Epileptic phenotypes associated with mitochondrial disorders.
@nl
P2093
P356
P1433
P1476
Epileptic phenotypes associated with mitochondrial disorders.
@en
P2093
Avanzini G
Canafoglia L
Franceschetti S
Lamantea E
Savoiardo M
P304
P356
10.1212/WNL.56.10.1340
P407
P577
2001-05-01T00:00:00Z