The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset Dystonia-Parkinsonism, CAPOS and beyond

Pediatric Neurology

Volumn 52, Issue 1, 2015, Pages 56-64

  Sweney, Matthew T ^a   Newcomb, Tara M ^a   Swoboda, Kathryn J ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

alternating hemiplegia of childhood; ataxia; ATP1A3; CAPOS syndrome; dystonia; hemiplegia; rapid onset dystonia Parkinsonism; sodium potassium ATPases

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ANTICONVULSIVE AGENT; BENZODIAZEPINE DERIVATIVE; CARBIDOPA PLUS LEVODOPA; CHLORAL HYDRATE; EXCITATORY AMINO ACID TRANSPORTER 1; GLUCOSE TRANSPORTER 1; HOMOVANILLIC ACID; PHENOBARBITAL; TOPIRAMATE; ATP1A3 PROTEIN, HUMAN;

ALTERNATING HEMIPLEGIA OF CHILDHOOD; ARTICLE; ATAXIA; CAPOS SYNDROME; CEREBELLAR ATAXIA; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DYSTONIA; GENOTYPE PHENOTYPE CORRELATION; HEMIPLEGIA; HUMAN; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; OPTIC NERVE ATROPHY; PARALYSIS; PARKINSONISM; PERCEPTION DEAFNESS; PHENOTYPE; RAPID ONSET DYSTONIA PARKINSONISM; ANIMAL; CHILD; DYSTONIC DISORDERS; FOOT DEFORMITIES, CONGENITAL; GENETICS; HEARING LOSS, SENSORINEURAL; MUTATION; OPTIC ATROPHY; PATHOLOGICAL REFLEX; PATHOPHYSIOLOGY;

ANIMALS; CEREBELLAR ATAXIA; CHILD; DIAGNOSIS, DIFFERENTIAL; DYSTONIC DISORDERS; FOOT DEFORMITIES, CONGENITAL; HEARING LOSS, SENSORINEURAL; HEMIPLEGIA; HUMANS; MUTATION; OPTIC ATROPHY; PHENOTYPE; REFLEX, ABNORMAL; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84919344100     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.09.015     Document Type: Article

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