Variant: rs1553245178 

    present in Gene: ATP1A2
    present in Chromosome: 1
    Position on Chromosome: 160130548
    Alleles of this Variant: G/A

rs1553245178 in ATP1A2 gene and Movement Disorders PMID 20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

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

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

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

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

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

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

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

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