The expanding clinical and genetic spectrum of ATP1A3-related disorders.

doi:10.1212/WNL.0000000000000212

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Article

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Neurology - 18 Mar 2014

Rosewich Hendrik, Ohlenbusch Andreas, Huppke Peter, Schlotawa Lars, Baethmann Martina, Carrilho Inês, Fiori Simona, Lourenço Charles Marques, Sawyer Sarah, Steinfeld Robert, Gärtner Jutta, Brockmann Knut

Abstract excerpt

OBJECTIVE: We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders and recognition of a potential genotype-phenotype correlation. METHODS: We identified 16 new patients with alternating hemiplegia of childhood (AHC) and 3 new patients with rapid-onset dystonia-parkinsonism (RDP) and included these as well as the clinical and molecular findings of all previously reported 164 patients...

Topics

Adolescent
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Dystonic Disorders
Female
Genetic Association Studies
Genotype
Hemiplegia
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Meta-Analysis as Topic

Mutation

Sodium-Potassium-Exchanging ATPase

Young Adult

Source

Open in PubMed

Identifiers

PMID: 24523486
DOI: 10.1212/WNL.0000000000000212

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