PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Affective Symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		0.020 Biomarker phenotype BEFREE Seizures with affective symptoms have been confirmed to be typical of PCDH19-related epilepsy. 27371789 2016
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		0.020 GeneticVariation phenotype BEFREE Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. 22946748 2012