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

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel <i>ATP1A2</i> mutation

Kathryn J. Swoboda, Emmanuel Kanavakis, Athina Xaidara, +6

Annals of Neurology

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

Matthew Sweney, Kenneth Silver, Marion Gérard‐Blanluet, +7

PEDIATRICS

Early Physical Therapy Effects on the High-Risk Infant: A Randomized Controlled Trial

Martha C. Piper, V. Ildiko Kunos, Diana M. Willis, +3

PEDIATRICS

Physical ActivityNeonatologyMotor DevelopmentPediatric RehabilitationEducation +22

Neonatal dural sinus thrombosis

Michael Shevell, Kenneth Silver, Augustin M. O’Gorman, +2

Pediatric Neurology

ThrombosisVenous ThrombosisNeonatologyPediatricsMedicine

Alternating hemiplegia of childhood

Kenneth Silver, Frédérick Andermann

Neurology

Neurological DisorderEducationCerebral PalsyPersistent MotorStroke +16

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

Louis Viollet, Gustavo Glusman, Kelley J. Murphy, +38

PLoS ONE

Mucolipidosis type IV: Clinical manifestations and natural history

David Chitayat, Catherine Meunier, Kathy Hodgkinson, +6

American Journal of Medical Genetics

PathogenesisCoarse FacePathologyMucolipidosis IvPsychomotor Development +5

Research conference summary from the 2014 International Task Force on <i>ATP1A3</i> -Related Disorders

Hendrik Rosewich, Matthew Sweney, Suzanne D. DeBrosse, +24

Neurology Genetics

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation

Sho Yano, Kenneth Silver, Richard Young, +4

Pediatric Neurology

New PhenotypeAutoimmune DiseaseDisease MechanismMedicinePathogenesis +7