Mutations in ATP1A3 cause alternating hemiplegia of childhood

Clinical Genetics

Volumn 83, Issue 1, 2013, Pages 32-33

  Aminkeng, F ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALTERNATING HEMIPLEGIA; ATAXIA; AUTONOMIC DYSFUNCTION; CHILD; CHOREOATHETOSIS; CLINICAL ARTICLE; DISEASE DURATION; DYSARTHRIA; DYSTONIA; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HEMIPLEGIA; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NOTE; NYSTAGMUS; OCULOMOTOR NERVE DISEASE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE;

EID: 84871220952     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12031     Document Type: Note

References (3)

1. Mikati MA, Maguire H, Barlow CF et al. A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. Neurology 1992: 42 (12): 2251-2257.
2. Incorpora G, Pavone P, Polizzi A et al. An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins. J Child Neurol 2012: 27 (5): 657-662.
3. +-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 2004: 43 (2): 169-175.