Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

ATP1A3mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

(2012) ALLISON BRASHEAR et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

(2012) Hendrik Rosewich et al.   LANCET NEUROLOGY

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

UTGB toolkit for personalized genome browsers

(2009) T. L. Saito et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION

(2009) I. A. Anselm et al.   NEUROLOGY

Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome

(2009) M. T. Sweney et al.   PEDIATRICS

Mutation I810N in the  3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS

(2009) S. J. Clapcote et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA