Condition: CAPOS syndrome
rs1064797245 in
ATP1A3 gene and
CAPOS syndrome
PMID 27726050 2017 Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
PMID 27268479 2016 Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
PMID 27634470 2016 De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
PMID 24468074 2014 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.