Features include always present findings: EEG with spike-wave complexes (2.5-3.5 Hz), Seizure, Febrile seizure (within the age range of 3 months to 6 years), and Low muscle tone (hypotonia) and others. 12 total HPO annotations.

KCNA2 encodes potassium voltage-gated channel subfamily A member 2 (499 aa). Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Highest expression in Brain Cerebellum (35.9 TPM) and Brain Cerebellar Hemisphere (29.5 TPM).

Developmental and epileptic encephalopathy, 32 is associated with mutations in the KCNA2 gene on chromosome 1.

KCNA2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.7.

Genetic testing for KCNA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 32 has been reported in the published literature.

Phenotype severity distribution: 8 always present features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 32.

103 publications have been identified in PubMed for developmental and epileptic encephalopathy, 32. Research spans Epidemiology / Natural History (36%), Review / Meta-Analysis (15%), and Basic Science / Preclinical (14%).