Mosaicism in ATP1A3-related disorders: not just a theoretical risk

Relapsing encephalopathy with cerebellar ataxia related to anATP1A3mutation

(2015) Rodolphe Dard et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2015) Alex R. Paciorkowski et al.   EPILEPSIA

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

(2015) Ana Potic et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

(2015) Eleni Panagiotakaki et al.   Orphanet Journal of Rare Diseases

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

(2015) Matthew T. Sweney et al.   PEDIATRIC NEUROLOGY

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

(2015) Louis Viollet et al.   PLoS One

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel ATP1A3 mutation with unique clinical presentation

(2014) Hendrik Rosewich et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Distinct neurological disorders with ATP1A3 mutations

(2014) Erin L Heinzen et al.   LANCET NEUROLOGY

Cognitive impairment in rapid-onset dystonia-parkinsonism

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

Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome

(2014) H. Rosewich et al.   NEUROLOGY

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

Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status

(2013) Christina E. Hoei-Hansen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Relationship between Intracellular Na+Concentration and Reduced Na+Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease

(2013) Mads S. Toustrup-Jensen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

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

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