A 2-year-old Waikato girl was having around 30 seizures daily before being diagnosed with a rare condition, her mum said.

News-Medical speaks to Dr. Dan Lavery about the LouLou Foundation, a non-profit organization dedicated to CDLK5 Deficiency Disorder. Could you please tell us about the LouLou foundation?

CDD involves losing the function of a gene producing the CDKL5 enzyme, which phosphorylates proteins, meaning it adds an extra phosphate molecule to alter their function. Until now, researchers ...

indicating that these mutations disrupt the normal function of the gene. "Importantly, expressing CDKL1 or CDKL2 patient variants together with normal CDKL1, CDKL2 or CDKL5 in the flies ...

Zhou and colleagues in 2012 generated “Cdkl5 knockout” mice in which Cdkl5 has a function-destroying mutation ... They discovered, first, that the gene is active in the mouse brain not just ...

is a neurodevelopmental disorder caused by loss-of-function mutations in the CDKL5 gene, which encodes a kinase necessary for the proper function of neurons. CDD usually presents as seizures or ...

Function identifies drug candidates that could target the ... we’ve identified several promising drug candidates that can alter CDKL5 gene expression. These candidates require additional evaluation, ...

CDKL5 stands for cyclin-dependent kinase-like 5, a protein whose gene is located on the X chromosome. The CDKL5 gene provides instructions for making a protein that is essential in forming the ...

CDD involves losing the function of a gene producing the CDKL5 enzyme, which phosphorylates proteins, meaning it adds an extra phosphate molecule to alter their function. Until now, researchers ...

CDKL5, one of the five members of the CDKL family of genes ... indicating that these mutations disrupt the normal function of the gene. "The results suggest that these disease-associated variants ...