Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24


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.