Variant: rs1553245943 

    present in Gene: ATP1A2
    present in Chromosome: 1
    Position on Chromosome: 160137001
    Alleles of this Variant: G/A

rs1553245943 in ATP1A2 gene and Hemiplegic migraine, familial type 1 PMID 19458722 2009 Crystal structure of the sodium-potassium pump at 2.4 A resolution.

PMID 18028407 2008 Epilepsy as part of the phenotype associated with ATP1A2 mutations.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24921013 2014 Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.

rs1553245943 in ATP1A2 gene and Overgrowth PMID 23918834 2014 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

PMID 16344534 2005 Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

PMID 25138102 2015 A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

PMID 16088919 2005 ATP1A2 mutations in 11 families with familial hemiplegic migraine.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 1361034 1992 A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

PMID 20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

PMID 14667076 2003 Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

PMID 28811059 2017 An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

PMID 15286158 2004 A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

PMID 15174025 2004 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

PMID 17473835 2007 First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.