Seizures associated with cyclin-dependent kinase-like 5 deficiency disorder

Seizures associated with cyclin-dependent kinase-like 5 deficiency disorder represent the central neurological manifestation of a rare X-linked developmental and epileptic encephalopathy caused by loss-of-function variants in the CDKL5 gene The underlying disruption in CDKL5 protein function impairs normal neuronal signaling and synaptic development, which, alongside persistent epileptiform activity, leads to profound neurodevelopmental impairment, global hypotonia, and severe motor and cognitiv...

Seizures associated with cyclin-dependent kinase-like 5 deficiency disorder represent the central neurological manifestation of a rare X-linked developmental and epileptic encephalopathy caused by loss-of-function variants in the CDKL5 gene

Primarily presenting in early infancy—predominantly affecting females—this clinical state is characterized by refractory epilepsy with onset typically within the first few months of life, progressing to diverse daily seizure types such as epileptic spasms, generalized tonic-clonic convulsions, and multistage seizures

Primarily presenting in early infancy—predominantly affecting females—this clinical state is characterized by refractory epilepsy with onset typically within the first few months of life, progressing to diverse daily seizure types such as epileptic spasms, generalized tonic-clonic convulsions, and multistage seizures

Primarily presenting in early infancy—predominantly affecting females—this clinical state is characterized by refractory epilepsy with onset typically within the first few months of life, progressing to diverse daily seizure types such as epileptic spasms, generalized tonic-clonic convulsions, and multistage seizures

Primarily presenting in early infancy—predominantly affecting females—this clinical state is characterized by refractory epilepsy with onset typically within the first few months of life, progressing to diverse daily seizure types such as epileptic spasms, generalized tonic-clonic convulsions, and multistage seizures The underlying disruption in CDKL5 protein function impairs normal neuronal signaling and synaptic development, which, alongside persistent epileptiform activity, leads to profound ...

The underlying disruption in CDKL5 protein function impairs normal neuronal signaling and synaptic development, which, alongside persistent epileptiform activity, leads to profound neurodevelopmental impairment, global hypotonia, and severe motor and cognitive disability