Document Detail

Long-term outcome of epilepsy in Kabuki syndrome.
MedLine Citation:
PMID:  21741276     Owner:  NLM     Status:  MEDLINE    
RESULTS: All patients presented partial seizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas. Seven children had no central nervous system abnormalities, but enlargement of lateral ventricles, corpus callosum hypoplasia, and adenohypophysis hypoplasia were revealed in three. Although antiepileptic drug (AED) treatment was effective in controlling seizures and normalizing EEG abnormalities in 8 patients, the other 2 cases were resistant to multiple AEDs. In one of these two patients, withdrawal of AED resulted in status epilepticus and death.
CONCLUSIONS: Partial seizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer from epilepsy. Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities.
Alberto Verrotti; Sergio Agostinelli; Chiara Cirillo; Claudia D'Egidio; Angelika Mohn; Agata Boncimino; Giangennaro Coppola; Alberto Spalice; Francesco Nicita; Piero Pavone; Giuseppe Gobbi; Salvatore Grosso; Francesco Chiarelli; Salvatore Savasta
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2011-07-07
Journal Detail:
Title:  Seizure     Volume:  20     ISSN:  1532-2688     ISO Abbreviation:  Seizure     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-09-05     Completed Date:  2012-06-18     Revised Date:  2014-10-21    
Medline Journal Info:
Nlm Unique ID:  9306979     Medline TA:  Seizure     Country:  England    
Other Details:
Languages:  eng     Pagination:  650-4     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
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MeSH Terms
Abnormalities, Multiple / diagnosis*,  physiopathology
Electroencephalography / trends
Epilepsy / complications*,  diagnosis*,  physiopathology
Face / abnormalities,  physiopathology
Hematologic Diseases / complications*,  diagnosis*,  physiopathology
Time Factors
Treatment Outcome
Vestibular Diseases / complications*,  diagnosis*,  physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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