Features include always present findings: Generalized non-motor (absence) seizure and Intellectual disability; and very common findings: Febrile seizure (within the age range of 3 months to 6 years). 13 total HPO annotations.

HCN1 encodes hyperpolarization activated cyclic nucleotide gated potassium channel 1 (890 aa). Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions. Displays lower selectivity for K(+) over Na(+) ions. Highest expression in Brain Frontal Cortex BA9 (9.1 TPM) and Brain Cerebellar Hemisphere (5.7 TPM).

Developmental and epileptic encephalopathy, 24 is associated with mutations in the HCN1 gene on chromosome 5.

The HCN1 protein participates in HCN channel Homomer of subunit HCN1 and HCNs:cAMP bind SNIs pathways.

HCN1 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 7.5.

Genetic testing for HCN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 24 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 7 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 24.

197 publications have been identified in PubMed for developmental and epileptic encephalopathy, 24. Kisho has analyzed 107 by research type. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (15%).