De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, +90

Nature Genetics

Rare DiseasesMendelian DisorderGenetic DisorderGeneticsPathology +6

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

Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, +30

Orphanet Journal of Rare Diseases

Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients

Livia Pisciotta, Marcella Gherzi, Michela Stagnaro, +5

Brain and Development

Pediatric HematologyHematologyPediatricsRehabilitationNeurology +3

Cardiac phenotype in <i>ATP1A3</i> -related syndromes

Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez‐García‐Rovés, +50

Neurology

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Fatima Jaffer, Andreja Avberšek, Rosaria Vavassori, +35

Brain

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

Valeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro, +4

BMC Medical Genetics

Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients

Ramona Cordani, Michela Stagnaro, Livia Pisciotta, +4

Frontiers in Neurology

Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism

S. Fornarino, Michela Stagnaro, Martina Rinelli, +5

Neurology

Motor DysfunctionNeurological DisorderMotor DevelopmentSocial SciencesNeurobiology Of Disease +20

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases

Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, +6

European Journal of Paediatric Neurology

Rare DiseasesMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +7

White matter and cerebellar involvement in alternating hemiplegia of childhood

Mariasavina Severino, Livia Pisciotta, Domenico Tortora, +10

Journal of Neurology

NeurophysiologyNeuroanatomyDevelopmental Cognitive NeuroscienceMedicineNeurological Disorder +12