Kwong, Anna Ka-Yee <br/><br/>
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.  [electronic resource] 

 -  Brain & development  Nov 2019 
 - 883-887 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1872-7131 
<br/><br/><label>Standard No.: </label>10.1016/j.braindev.2019.07.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Asian People--genetics<br/>China<br/>Cytochrome-c Oxidase Deficiency--metabolism<br/>Dystonic Disorders--genetics<br/>Epilepsy--physiopathology<br/>Family<br/>Female<br/>Homeodomain Proteins--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Mitochondria<br/>Muscle, Skeletal--metabolism<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Seizures--physiopathology<br/>Spasms, Infantile--etiology<br/>Transcription Factors--genetics<br/>Valproic Acid--pharmacology