Features include always present findings: Axial hypotonia; and very common findings: Absent speech and Inability to walk. 20 total HPO annotations.

CACNA1E encodes calcium voltage-gated channel subunit alpha1 E (2,313 aa). Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells. Highest expression in Brain Nucleus accumbens basal ganglia (20.3 TPM) and Brain Caudate basal ganglia (11.9 TPM).

Developmental and epileptic encephalopathy, 69 is associated with mutations in the CACNA1E gene on chromosome 1.

CACNA1E is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.2.

Genetic testing for CACNA1E is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 69 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 very common features, 4 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 69.

62 publications have been identified in PubMed for developmental and epileptic encephalopathy, 69. Research spans Epidemiology / Natural History (34%), Review / Meta-Analysis (23%), and Case Report / Case Series (15%).