Novel mutations inATP1A3associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

(2014) Adrian L. Oblak et al.   ACTA NEUROPATHOLOGICA

Cognitive impairment in rapid-onset dystonia-parkinsonism

(2014) Jared F. Cook et al.   MOVEMENT DISORDERS

Genotype-phenotype correlations in alternating hemiplegia of childhood

(2014) M. Sasaki et al.   NEUROLOGY

The expanding clinical and genetic spectrum of ATP1A3-related disorders

(2014) H. Rosewich et al.   NEUROLOGY

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

(2014) Michelle K Demos et al.   Orphanet Journal of Rare Diseases

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

(2014) Xiaoling Yang et al.   PLoS One

A pathophysiological link between dystonia, striatal interneurons and neuropeptide Y

(2013) Paolo Calabresi et al.   BRAIN

Enhanced inhibitory neurotransmission in the cerebellar cortex ofAtp1a3-deficient heterozygous mice

(2013) Keiko Ikeda et al.   JOURNAL OF PHYSIOLOGY-LONDON

The multiple faces of theATP1A3-related dystonic movement disorder

(2013) Anne Roubergue et al.   MOVEMENT DISORDERS

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

(2013) Atsushi Ishii et al.   PLoS One

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

A Specific and Essential Role for Na,K-ATPase α3 in Neurons Co-expressing α1 and α3

(2012) Guillaume Azarias et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical spectrum of disease associated with ATP1A3 mutations

(2012) Laurie J Ozelius   LANCET 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

Psychiatric disorders in rapid-onset dystonia-parkinsonism

(2012) A. Brashear et al.   NEUROLOGY

Selective Inhibition of Striatal Fast-Spiking Interneurons Causes Dyskinesias

(2011) A. H. Gittis et al.   JOURNAL OF NEUROSCIENCE

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

(2010) Eleni Panagiotakaki et al.   BRAIN

Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood

(2010) Yoshiaki Saito et al.   EPILEPSY RESEARCH

Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain

(2010) Pernille Bøttger et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Differential effects of Na+-K+ATPase blockade on cortical layer V neurons

(2010) Trent R. Anderson et al.   JOURNAL OF PHYSIOLOGY-LONDON

Rapid-onset dystonia-parkinsonism: case report

(2009) Marina Svetel et al.   JOURNAL OF NEUROLOGY

Crystal structure of the sodium–potassium pump at 2.4 Å resolution

(2009) Takehiro Shinoda et al.   NATURE

Temporal and topographic alterations in expression of the α3 isoform of Na+,K+-ATPase in the rat freeze lesion model of microgyria and epileptogenesis

(2009) Y. Chu et al.   NEUROSCIENCE

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