Features include always present findings: Narrow forehead, Poor head control, Generalized non-motor (absence) seizure, and Profound intellectual disability and others; and common findings: Tented upper lip vermilion, Focal impaired awareness hemiclonic seizure, Continuous spike and waves during slow sleep, and Nystagmus and others.

CACNA2D1 encodes calcium voltage-gated channel auxiliary subunit alpha2delta 1 (1,103 aa). The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Highest expression in Muscle Skeletal (37.2 TPM) and Colon Sigmoid (22.6 TPM).

Developmental and epileptic encephalopathy 110 is associated with mutations in the CACNA2D1 gene on chromosome 7.

The CACNA2D1 protein participates in CaV3.2 (CACNA1H:CACNA2D1:CACNB1,2,3:CACNG7) transports calcium from the extracellular region to the cytosol pathway.

CACNA2D1 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 2.5.

Genetic testing for CACNA2D1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 110 has been reported in the published literature.

Phenotype severity distribution: 16 always present features, 12 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 110.

13 publications have been identified in PubMed for developmental and epileptic encephalopathy 110. Research spans Basic Science / Preclinical (31%), Case Report / Case Series (23%), and Review / Meta-Analysis (15%).