Features include always present findings: Bilateral tonic-clonic seizure, Clonic seizure, Macroglossia, and Autistic behavior and others; and very common findings: Delayed speech and language development, Global developmental delay, and Epileptic encephalopathy. 27 total HPO annotations.

KCNH5 encodes potassium voltage-gated channel subfamily H member 5 (988 aa). Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate. Highest expression in Brain Frontal Cortex BA9 (3.3 TPM) and Brain Cortex (2.3 TPM).

Developmental and epileptic encephalopathy 112 is associated with mutations in the KCNH5 gene on chromosome 14.

KCNH5 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 0.2.

Genetic testing for KCNH5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 112 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 3 very common features, 2 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 112.

24 publications have been identified in PubMed for developmental and epileptic encephalopathy 112. Research spans Basic Science / Preclinical (46%), Epidemiology / Natural History (38%), and Review / Meta-Analysis (8%).