Results 111 to 120 of about 2,451 (126)

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain, 2023
Sho Yano, Richard Person
exaly  

The diagnostic spectrum of ATP1A3-related disorders: 3 new patients

Journal of the Neurological Sciences, 2021
Puja Patel, Daniel N Lax
exaly  

<p>Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations</p>

The Application of Clinical Genetics, 2020
Giuseppe Tiralongo, Giacomo Garone, Alessandro Capuano   +2 more
exaly  

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

Brain, 2021
Carmen Barba, Davide Mei, Alessandro Simonati   +2 more
exaly  

ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle

Parkinsonism and Related Disorders, 2023
Laura Williams
exaly  

ATP1A3-related disorders: An update

European Journal of Paediatric Neurology, 2018
Nardo Nardocci, Giovanna Zorzi, Miryam Carecchio   +2 more
exaly  

Atp1a3‐deficient heterozygous mice show lower rank in the hierarchy and altered social behavior

Genes, Brain and Behavior, 2018
Kiyoshi Kawakami
exaly  

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

European Journal of Paediatric Neurology, 2019
Gaëtan Lesca, Christine Pietrement, Cyril Mignot   +2 more
exaly  

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

Pediatric Neurology, 2017
Gyula Acsádi, Sho Yano, Kathryn Swoboda   +2 more
exaly  

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Epilepsia, 2015
Kathleen J Sweadner, William Dobyns, Allison Brashear   +2 more
exaly