Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
Anselm
I A
IA
Department of Neurology, Fegan 11, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. basil.darras@childrens.harvard.edu
Sweadner
K J
KJ
Gollamudi
S
S
Ozelius
L J
LJ
Darras
B T
BT
D000208:Acute Disease; D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D003680:Deglutition Disorders / Q000235:genetics / Q000503:physiopathology; D018450:Disease Progression; D020821:Dystonic Disorders / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D049268:Positron-Emission Tomography; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C488756:ATP1A3 protein, human; D005819:Genetic Markers; D000254:Sodium-Potassium-Exchanging ATPase