PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Febrile infection related epilepsy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4049262
Disease: Febrile infection related epilepsy syndrome
Febrile infection related epilepsy syndrome 		0.020 GeneticVariation disease BEFREE Mutations in PCDH19, SCN1A, POLG, or CNVs are not responsible for FIRES. 23066759 2012
CUI: C4049262
Disease: Febrile infection related epilepsy syndrome
Febrile infection related epilepsy syndrome 		0.020 GeneticVariation disease BEFREE We believe that female patients with febrile acute-onset epilepsy resembling FIRES are potential PCDH19 mutation carriers. 21777234 2011