DCLK1

The protein is a serine/threonine kinase containing doublecortin domains that bind microtubules and regulate microtubule polymerization, functioning in neuronal migration, retrograde transport, and neurogenesis in the developing and mature nervous system. Mutations cause autosomal dominant epileptic encephalopathy with intellectual disability and developmental delay, typically presenting in early childhood. This gene is extremely intolerant to loss-of-function mutations, indicating that even single functional copies may be insufficient for normal development.