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].

Diaper changing-induced reflex seizures in CDKL5-related epilepsy

SOLAZZI, Roberta
Writing – Original Draft Preparation
;
Darra, Francesca
Supervision
;
Dalla Bernardina, Bernardo
Supervision
;
Cantalupo, Gaetano
Conceptualization
2018-01-01

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].
CDKL5-related encephalopathy; diaper changing-induced reflex seizure; reflex seizure; rub epilepsy; Drug Resistant Epilepsy; Electroencephalography; Epilepsies, Myoclonic; Epilepsy; Humans; Mutation; Phenotype; Protein-Serine-Threonine Kinases; Seizures
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/991991
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