CLCN4, chloride voltage-gated channel 4, 1183

N. diseases: 22; N. variants: 0
Disease: Epilepsy ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 AlteredExpression disease BEFREE ClC-4 is an intracellular Cl<sup>-</sup>/H<sup>+</sup> exchanger that is highly expressed in the brain and whose dysfunction has been linked to intellectual disability and epilepsy. 28972156 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 Biomarker disease BEFREE In three children, the de novo variants were in genes with functional roles that are plausibly relevant to epilepsy (KCNH5, CLCN4, and ARHGEF15). 23647072 2013