Document Detail


Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.
MedLine Citation:
PMID:  20643614     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.
Authors:
Simona Giovannini; Daniele Frattini; Angela Scarano; Carlo Fusco; Gianna Bertani; Elvio Della Giustina; Paola Martinelli; Daniela Orteschi; Marcella Zollino; Giovanni Neri; Giuseppe Gobbi
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-07-19
Journal Detail:
Title:  Epileptic disorders : international epilepsy journal with videotape     Volume:  12     ISSN:  1294-9361     ISO Abbreviation:  Epileptic Disord     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-08     Completed Date:  2010-10-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100891853     Medline TA:  Epileptic Disord     Country:  France    
Other Details:
Languages:  eng     Pagination:  222-7     Citation Subset:  IM    
Affiliation:
Neuropsichiatria Infantile, Ospedale Maggiore, Bologna, Italy. giovanninisimona@libero.it
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MeSH Terms
Descriptor/Qualifier:
Child
Chromosomes, Human, Pair 14 / genetics*
Electroencephalography
Epilepsies, Partial / complications,  physiopathology*
Humans
Infant
Male
Ring Chromosomes*
Seizures / complications,  physiopathology*
Sleep / physiology
Status Epilepticus / genetics,  physiopathology*
Wakefulness / physiology

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


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