Variant: rs544994462 

    present in Gene: HCN1
    present in Chromosome: 5
    Position on Chromosome: 45695954
    Alleles of this Variant: C/A

rs544994462 in HCN1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 PMID 24747641 2014 De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

PMID 30351409 2018 HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

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