Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
Leuzzi
V
V
Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Roma, Italy. vincenzo.leuzzi@uniroma1.it
Di Sabato
M L
ML
Deodato
F
F
Rizzo
C
C
Boenzi
S
S
Carducci
C
C
Malaspina
P
P
Liberanome
C
C
Dionisi-Vici
C
C
D000293:Adolescent; D001921:Brain / Q000187:drug effects* / Q000201:enzymology / Q000503:physiopathology; D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000201:enzymology / Q000503:physiopathology; D020821:Dystonic Disorders / Q000188:drug therapy* / Q000201:enzymology / Q000209:etiology*; D004827:Epilepsy / Q000201:enzymology / Q000209:etiology; D005121:Extremities / Q000503:physiopathology; D018682:GABA Agents / Q000627:therapeutic use; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism; D008607:Intellectual Disability / Q000201:enzymology / Q000209:etiology; D007558:Italy; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D016896:Treatment Outcome; D020888:Vigabatrin / Q000627:therapeutic use*; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
D018682:GABA Agents; D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; D005680:gamma-Aminobutyric Acid; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase; D020888:Vigabatrin