Epileptic spasms with terror during sleep in CDKL5 encephalopathy.

ABSTRACT:

Study objectives

To describe early diagnostic clues in Cyclin-Dependent Kinase-Like 5 (CDKL5) refractory encephalopathy, to improve treatment strategies.

Methods

We retrospectively studied 35 patients (25 females, 10 males) with CDKL5 gene mutations or deletion, focusing on their early seizure semiology, the electroencephalogram (EEG) pattern, the effect of treatment, and developmental outcome.

Results

The first seizures were recognizable and consisted of tonic, then clonic, and spasms phases, occurring in sleep at a median age of 6 weeks. Clusters of spasms were observed in quiet sleep or slow-wave sleep (SWS), with screaming, staring, and arms' extension that mimicked sleep terror in 28 of 35 patients (80%). Programmed awakening prevented these spasms in 9 of

SUBMITTER: Melikishvili G 

PROVIDER: S-EPMC10104379 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature