Epileptic phenotypes in children with respiratory chain disorders. - Wikidata - awgldk - TriplyDB

Epileptic phenotypes in children with respiratory chain disorders.

Epileptic phenotypes in children with respiratory chain disorders.

http://www.wikidata.org/entity/Q43144972

about

Mitochondrial disease in childhood: nuclear encoded Treatment of mitochondrial disorders.Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders Acute-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 encephalopathy Prospective 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 GUF1 Mitochondrial 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 disease Inborn 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).

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P2860

Epileptic phenotypes in children with respiratory chain disorders.

http://www.wikidata.org/entity/Q43144972

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

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Epileptic phenotypes in children with respiratory chain disorders.

@en

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Anne-Sophie Lebre

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Christine Soufflet

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Isabelle Desguerre

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Marlène Rio

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Nadia Bahi-Buisson

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Nathalie Boddaert

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Olivier Dulac

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Pascale Delonlay

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Sandra El Sabbagh

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P2860

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

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children.

Epileptic phenotypes associated with mitochondrial disorders.

SPECT measurements with 99mTc-HM-PAO in focal epilepsy.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

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1225-1235

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scholarly article

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