ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV. [electronic resource]
Producer: 20200407Description: 883-887 p. digitalISSN:- 1872-7131
- Adolescent
- Adult
- Asian People -- genetics
- China
- Cytochrome-c Oxidase Deficiency -- metabolism
- Dystonic Disorders -- genetics
- Epilepsy -- physiopathology
- Family
- Female
- Homeodomain Proteins -- genetics
- Humans
- Intellectual Disability -- genetics
- Male
- Mitochondria
- Muscle, Skeletal -- metabolism
- Mutation
- Pedigree
- Phenotype
- Seizures -- physiopathology
- Spasms, Infantile -- etiology
- Transcription Factors -- genetics
- Valproic Acid -- pharmacology
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Publication Type: Case Reports; Journal Article
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