Article
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology - 4 Oct 2022
Vezyroglou Aikaterini, Akilapa Rhoda, Barwick Katy, Koene Saskia, Brownstein Catherine A, Holder-Espinasse Muriel, Fry Andrew E, Németh Andrea H, Tofaris George K, Hay Eleanor, Hughes Imelda, Mansour Sahar, Mordekar Santosh R, Splitt Miranda, Turnpenny Peter D, Demetriou Demetria, Koopmann Tamara T, Ruivenkamp Claudia A L, Agrawal Pankaj B, Carr Lucinda, Clowes Virginia, Ghali Neeti, Holder Susan Elizabeth, Radley Jessica, Male Alison, Sisodiya Sanjay M, Kurian Manju A, Cross J Helen, Balasubramanian Meena
Abstract excerpt
BACKGROUND AND OBJECTIVES: ATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome. This phenotypic variability makes it challenging to assess the...
Topics
- Cerebellar Ataxia
- Dystonic Disorders
- Hemiplegia
- Humans
- Mutation
- Phenotype
- Sodium-Potassium-Exchanging ATPase