PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Seizures, Focal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 GeneticVariation phenotype BEFREE Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures. 29064093 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 GeneticVariation phenotype BEFREE Individuals with epilepsy associated with mutations in the PCDH19 gene display generalized or focal seizures with or without fever sensitivity. 29866057 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 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
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 Biomarker phenotype HPO