Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism

Movement Disorders

Volumn 29, Issue 1, 2014, Pages 153-154

  Sasaki, Masayuki ^a   Ishii, Atsushi ^b   Saito, Yoshiaki ^a   Hirose, Shinichi ^b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b FUKUOKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM);

ATAXIC GAIT; CASE REPORT; CHILD; DYSARTHRIA; DYSTONIA; FLACCID PARALYSIS; HEMIPLEGIA; HUMAN; HYPERSALIVATION; LETTER; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; ONSET AGE; PREGNANCY; PRIORITY JOURNAL; RAPID ONSET DYSTONIA PARKINSONISM; SCHOOL CHILD;

CHILD; DYSTONIC DISORDERS; HEMIPLEGIA; HUMANS; MALE;

EID: 84892943589     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25659     Document Type: Letter

References (8)

1. Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030-1034.
2. Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11:764-773.
3. Ishii A, Saito Y, Mitsui J, et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One. 2013;8:e56120.
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8. Roubergue A, Roze E, Vuillaumier-Barrot S, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord. 2013;28:1457-1459.