TY  - GEN
AU  - Kwong,Anna Ka-Yee
AU  - Chu,Vanessa Loi-Yan
AU  - Rodenburg,Richard J T
AU  - Smeitink,Jan
AU  - Fung,Cheuk-Wing
TI  - ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV
SN  - 1872-7131
PY  - 2020///0407
KW  - Adolescent
KW  - Adult
KW  - Asian People
KW  - genetics
KW  - China
KW  - Cytochrome-c Oxidase Deficiency
KW  - metabolism
KW  - Dystonic Disorders
KW  - Epilepsy
KW  - physiopathology
KW  - Family
KW  - Female
KW  - Homeodomain Proteins
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mitochondria
KW  - Muscle, Skeletal
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Seizures
KW  - Spasms, Infantile
KW  - etiology
KW  - Transcription Factors
KW  - Valproic Acid
KW  - pharmacology
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.braindev.2019.07.003
ER  -