CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Epilepsy, Temporal Lobe ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.020 Biomarker disease BEFREE Autoantibodies against CASPR2 (contactin-associated protein-like 2) have been linked to autoimmune limbic encephalitis that manifests with memory disorders and temporal lobe seizures. 31176559 2019
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.020 GeneticVariation disease BEFREE Significant serum levels of antibodies were detected in eight out of 163 (5%) TLE patients (CASPR2 n = 2, GAD n = 3, LGI1 n = 2, and GABA<sub>B</sub>R n = 1). 30391660 2018