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

A functional correlate of severity in alternating hemiplegia of childhood

(2015) Melody Li et al.   NEUROBIOLOGY OF DISEASE

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

(2014) Claudia M Weller et al.   CEPHALALGIA

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

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

Identical ATP1A3 Mutation Causes Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia Parkinsonism Phenotypes

(2014) Cyrus Boelman et al.   PEDIATRIC NEUROLOGY

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

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

The multiple faces of theATP1A3-related dystonic movement disorder

(2013) Anne Roubergue et al.   MOVEMENT DISORDERS

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

Lack of SLC2A1 (Glucose Transporter 1) Mutations in 30 Italian Patients With Alternating Hemiplegia of Childhood

(2012) Elisa De Grandis et al.   JOURNAL OF 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

Absence of Mutation in theSLC2A1Gene in a Cohort of Patients with Alternating Hemiplegia of Childhood (AHC)

(2011) S. Vuillaumier-Barrot et al.   NEUROPEDIATRICS

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

Paroxysmal Hemipareses in Childhood

(2010) J. Dittrich et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Alternating Hemiplegia in Infants: Report of Five Cases

(2010) Ingeborg Krägeloh et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

(2009) P. Blanco-Arias et al.   HUMAN MOLECULAR GENETICS

Rapid-onset dystonia-parkinsonism: case report

(2009) Marina Svetel et al.   JOURNAL OF NEUROLOGY

GLUT1 DEFICIENCY AND ALTERNATING HEMIPLEGIA OF CHILDHOOD

(2009) M. Rotstein et al.   NEUROLOGY

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

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

(2008) B de Vries et al.   CEPHALALGIA

NOVEL ATP1A3 MUTATION IN A SPORADIC RDP PATIENT WITH MINIMAL BENEFIT FROM DEEP BRAIN STIMULATION

(2008) C. Kamm et al.   NEUROLOGY