Variant: rs1424788778 

    present in Gene: LOC107987139;KCNT1
    present in Chromosome: 9
    Position on Chromosome: 135784078
    Alleles of this Variant: G/A

rs1424788778 in LOC107987139;KCNT1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 PMID 24029078 2013 A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

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

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23086397 2012 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.