CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Case presentation: A previously healthy full term 4 month-old boy, presented by 1 months with tonic jerks of the upper limbs and slight behavior arrest. He had no signs infection history recent vaccination. These became daily, more intense, lateralized associated oral automatisms blinking. They a very brief duration, mostly 20–30 seconds each. EEG showed bilateral temporo-occipital sharp transients right temporal slow. Phenobarbital was started partial seizure control; pyridoxine effect. Hence, levetiracetam initiated. second age 3 revealed multifocal epileptiform discharges, as well seizures characterized pedaling swimming movements parietal origin, on hemisphere. By this age, he predominantly axial hypotonia lost ability to fix follow an object. whole-exome sequencing test chrX:18.598.499 C>G CDKL5 mutation, known variant uncertain significance (VUS) up now.