Features include always present findings: Bilateral tonic-clonic seizure, Tremor, and Sudden, brief involuntary muscle jerks (myoclonus); and very common findings: Focal impaired awareness seizure. 7 total HPO annotations.

CNTN2 encodes contactin 2 (1,040 aa). In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. Highest expression in Brain Spinal cord cervical c-1 (179.0 TPM) and Brain Substantia nigra (61.6 TPM).

Epilepsy, familial adult myoclonic, 5 is associated with mutations in the CNTN2 gene on chromosome 1.

The CNTN2 protein participates in Transcription of NOTCH2NLB gene pathway.

CNTN2 is classified as a druggable target (Cell Surface, Druggable Genome, and Transporter categories) with score 0.0.

Genetic testing for CNTN2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 1 very common feature, 2 common features.

No clinical trials have been registered for epilepsy, familial adult myoclonic, 5.

49 publications have been identified in PubMed for epilepsy, familial adult myoclonic, 5. Research spans Epidemiology / Natural History (33%), Basic Science / Preclinical (24%), and Clinical Trial Publication (16%).