A novel ATP1A3 mutation with unique clinical presentation

Journal of the Neurological Sciences

Volumn 341, Issue 1-2, 2014, Pages 133-135

  Rosewich, Hendrik ^a   Baethmann, Martina ^b   Ohlenbusch, Andreas ^a   Gärtner, Jutta ^a   Brockmann, Knut ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b Krankenhaus Dritter Orden   (Germany)

Author keywords

Alternating hemiplegia of childhood; ATP1A3; Episodic weakness; Eye closure; Paroxysmal flaccidity; Rapid onset dystonia parkinsonism

Indexed keywords

ADOLESCENT; ALTERNATING HEMIPLEGIA OF CHILDHOOD; ARTICLE; ATP1A3 GENE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DYSTONIA; FEMALE; FLACCID PARALYSIS; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; ONSET AGE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; RAPID ONSET DYSTONIA PARKINSONISM; RISK FACTOR; TELEVISION VIEWING; DYSTONIC DISORDER; GENETICS; MUTATION;

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ATP1A3 PROTEIN, HUMAN;

ADOLESCENT; DYSTONIC DISORDERS; FEMALE; HUMANS; MUTATION; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84901242938     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.03.034     Document Type: Article

References (8)

1. +-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism Neuron 43 2004 169 175
2. A. Brashear, W.B. Dobyns, Aguiar P. de Carvalho, M. Borg, C.J. Frijns, and S. Gollamudi et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene Brain 130 2007 828 835
3. H. Rosewich, H. Thiele, A. Ohlenbusch, U. Maschke, J. Altmüller, and P. Frommolt et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study Lancet Neurol 11 2012 764 773
4. E.L. Heinzen, K.J. Swoboda, Y. Hitomi, F. Gurrieri, S. Nicole, and B. de Vries et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Nat Genet 44 2012 1030 1034
5. I.A. Anselm, K.J. Sweadner, S. Gollamudi, L.J. Ozelius, and B.T. Darras Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation Neurology 73 2009 400 401
6. A. Brashear, J.W. Mink, D.F. Hill, N. Boggs, W.V. McCall, and M.A. Stacy et al. ATP1A3 mutations in infants: a new rapid-onset dystonia-parkinsonism phenotype characterized by motor delay and ataxia Dev Med Child Neurol 54 2012 1065 1067
7. A. Roubergue, E. Roze, S. Vuillaumier-Barrot, M.J. Fontenille, A. Méneret, and M. Vidailhet et al. The multiple faces of the ATP1A3-related dystonic movement disorder Mov Disord 28 2013 1457 1459
8. M. Sasaki, A. Ishii, Y. Saito, and S. Hirose Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism Mov Disord 29 2014 153 154