The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

Maas, Roderick P P W M

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. [electronic resource] - Pediatric neurology 06 2016 - 71-75.e1 p. digital

Publication Type: Case Reports; Journal Article; Review

1873-5150

10.1016/j.pediatrneurol.2016.02.010 doi


Adult
Cerebellar Ataxia--genetics
Child
Child, Preschool
Family
Female
Foot Deformities, Congenital--genetics
Hearing Loss, Sensorineural--genetics
Humans
Male
Optic Atrophy--genetics
Point Mutation
Reflex, Abnormal--genetics
Sodium-Potassium-Exchanging ATPase--genetics