PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Familial Epilepsies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies 		0.010 GeneticVariation disease BEFREE Underlying causes were identified in 15 children (65%) and included SCN1A-related Dravet syndrome (formerly severe myoclonic epilepsy of infancy) or genetic epilepsy with febrile seizures plus syndrome (n = 8 and n = 1, respectively), a protocadherin 19 mutation, a 1qter microdeletion, neuronal migration disorders (n = 2), and other monogenic familial epilepsy (n = 2). 25225143 2014