CAPOS Syndrome: A Rare ATP1A3-Related Disorder

Overview

Journal Ann Indian Acad Neurol

Specialty Neurology

Date 2020 Jul 2

PMID 32606553

Citations 2

Authors

Indar K Sharawat

Ananthanarayanan Kasinathan

Renu Suthar

Naveen Sankhyan

Affiliations

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References

Nicolaides P, Appleton R, Fryer A . Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. J Med Genet. 1996; 33(5):419-21. PMC: 1050615. DOI: 10.1136/jmg.33.5.419. View

Paquay S, Wiame E, Deggouj N, Boschi A, De Siati R, Sznajer Y . Childhood hearing loss is a key feature of CAPOS syndrome: A case report. Int J Pediatr Otorhinolaryngol. 2017; 104:191-194. DOI: 10.1016/j.ijporl.2017.11.022. View

Maas R, Schieving J, Schouten M, Kamsteeg E, van de Warrenburg B . The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. Pediatr Neurol. 2016; 59:71-75.e1. DOI: 10.1016/j.pediatrneurol.2016.02.010. View

Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N . ATP1A3-related disorders: An update. Eur J Paediatr Neurol. 2018; 22(2):257-263. DOI: 10.1016/j.ejpn.2017.12.009. View

Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y . Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report. Brain Dev. 2018; 40(7):576-581. DOI: 10.1016/j.braindev.2018.03.004. View