Irene J Chang Margaret P Adam Suman Jayadev Thomas D Bird Niranjana Natarajan Ian A Glass
10.1002/ajmg.a.38502
Am J Med Genet A
2018 Jan;176(1):235-240.
atp1a3 capos syndrome cerebellar ataxia optic atrophy pregnancy sensorineural hearing loss
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/29090527/
Cerebellar Ataxia / diagnosis Cerebellar Ataxia / genetics Foot Deformities, Congenital / diagnosis Foot Deformities, Congenital / genetics Hearing Loss, Sensorineural / diagnosis Hearing Loss, Sensorineural / genetics Optic Atrophy / diagnosis Optic Atrophy / genetics Phenotype Pregnancy Complications Reflex, Abnormal / genetics
Cerebellar Ataxia / diagnosis Cerebellar Ataxia / genetics Foot Deformities, Congenital / diagnosis Foot Deformities, Congenital / genetics Hearing Loss, Sensorineural / diagnosis Hearing Loss, Sensorineural / genetics Optic Atrophy / diagnosis Optic Atrophy / genetics Phenotype Pregnancy Complications Reflex, Abnormal / genetics Case Reports Review Alleles Child, Preschool Female Genetic Association Studies Genotype Humans Infant Male Pedigree Pregnancy Sodium-Potassium-Exchanging ATPase / genetics ATP1A3 protein, human Sodium-Potassium-Exchanging ATPase CAPOS syndrome
PMC5726903
29090527
Novel pregnancy-triggered episodes of CAPOS syndrome
2018