CLCN6, chloride voltage-gated channel 6, 1185

N. diseases: 24; N. variants: 25
Disease: Febrile Convulsions ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.010 GeneticVariation disease BEFREE A cohort study of 48 BPEI patients without PRRT2 mutations revealed a different CLCN6 SNV in a patient, his sibling and his father who had a history of febrile seizures (FS) but not BPEI. 25794116 2015