Diaper changing-induced reflex seizures in CDKL5-related epilepsy

Area of Science:

• Genetics and Neurology
• Epilepsy Research
• Pediatric Neurology

Background:

• Cyclin-dependent kinase-like-5 (CDKL5) gene mutations are linked to severe early-onset epilepsy and cognitive impairment.
• Reflex seizures, triggered by specific stimuli, are documented, with diaper changing being an exceptionally rare trigger.
• Previous reports of diaper changing-induced seizures include focal, unclassified epilepsies, and Dravet syndrome.

Purpose of the Study:

• To document diaper changing-induced reflex seizures as a presenting feature in CDKL5-related epilepsy.
• To provide video-electroencephalogram (EEG) evidence of this rare reflex seizure type.
• To discuss the underlying neuronal hyperexcitability associated with CDKL5 gene mutations.

Main Methods:

• Case study of a patient with CDKL5-related epilepsy.
• Video-electroencephalogram (EEG) recording during a diaper changing event.
• Clinical observation and analysis of seizure characteristics.

Main Results:

• Diaper changing was identified as a specific trigger for reflex seizures in the described case.
• Video-EEG confirmed the epileptic nature of the events induced by diaper changing.
• The findings highlight a rare but distinct reflex seizure pattern in CDKL5 epilepsy.

Conclusions:

• Diaper changing-induced reflex seizures can be a presenting feature of CDKL5-related epilepsy.
• This case underscores the diverse clinical manifestations and potential triggers in CDKL5 encephalopathy.
• Understanding these specific triggers is crucial for managing hyperexcitability in CDKL5-related epilepsies.