Epileptic phenotypes in children with respiratory chain disorders.
about
Mitochondrial disease in childhood: nuclear encodedTreatment of mitochondrial disorders.Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial DisordersAcute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.Metabolic causes of epileptic encephalopathyProspective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Mitochondrial disease and epilepsy.Mitochondrial diseases and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Seizure semiology and EEG findings in mitochondrial diseases.Transition for patients with epilepsy due to metabolic and mitochondrial disorders.Acute rhabdomyolysis and inflammation.Review: Central nervous system involvement in mitochondrial diseaseInborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia.Leber's hereditary optic neuropathy mutations associated with infantile-onset myoclonic epilepsy.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.Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF).
P2860
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P2860
Epileptic phenotypes in children with respiratory chain disorders.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Epileptic phenotypes in children with respiratory chain disorders.
@en
Epileptic phenotypes in children with respiratory chain disorders.
@nl
type
label
Epileptic phenotypes in children with respiratory chain disorders.
@en
Epileptic phenotypes in children with respiratory chain disorders.
@nl
prefLabel
Epileptic phenotypes in children with respiratory chain disorders.
@en
Epileptic phenotypes in children with respiratory chain disorders.
@nl
P2093
P2860
P1433
P1476
Epileptic phenotypes in children with respiratory chain disorders.
@en
P2093
Anne-Sophie Lebre
Christine Soufflet
Isabelle Desguerre
Marlène Rio
Nadia Bahi-Buisson
Nathalie Boddaert
Olivier Dulac
Pascale Delonlay
Sandra El Sabbagh
P2860
P304
P356
10.1111/J.1528-1167.2009.02504.X
P577
2010-02-19T00:00:00Z