IndraLab

Statements

KCNH1 activates ZLS. 2 / 2
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"ZLS is caused by heterozygous gain-of-function variants in KCNH1 or KCNN3, and gain-of-function KCNK4 variants underlie the clinically similar FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability and developmental delay, and gingival overgrowth) syndrome; KCNH1, KCNN3 and KCNK4 encode potassium channels."
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"Thus, concordant to previous reports, our data supports the evidence that the mutated KCNH1 is a major cause of TMBTS and ZLS, while other genes can act as disease modifying roles."
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