Diaper changing-induced reflex seizures in CDKL5-related epilepsy.
Epileptic Disord
; 20(5): 428-433, 2018 10 01.
Article
in En
| MEDLINE
| ID: mdl-30378547
ABSTRACT
Mutations in the CDKL5 (cyclin-dependent kinase-like-5) gene are known to determine early-onset drug resistant epilepsies and severe cognitive impairment with absent language, hand stereotypies, and deceleration of head growth. Reflex seizures are epileptic events triggered by specific stimuli and diaper changing is a very rare triggering event, previously described in individual cases of both focal and unclassified epilepsy, as well as in Dravet syndrome. Our aim was to describe diaper changing-induced reflex seizures as one of the presenting features in a case of CDKL5-related epilepsy, providing video-EEG documentation and focusing discussion on hyperexcitability determined by the disease. [Published with video sequence on www.epilepticdisorders.com].
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epilepsies, Myoclonic
/
Protein Serine-Threonine Kinases
/
Epilepsy
/
Mutation
Limits:
Humans
Language:
En
Journal:
Epileptic Disord
Journal subject:
CEREBRO
/
NEUROLOGIA
Year:
2018
Document type:
Article