Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.
Angelisa FrascaEfterpi PavlidouMatteo BizzottoYunan GaoDario BalestraMirko PinottiHans Atli DahlNicholas D MazarakisNicoletta LandsbergerMaria KinaliPublished in: Neurology. Genetics (2022)
, therefore highlighting the importance of a tight control of CDKL5 activity in the brain.