Document Detail


Epilepsy in ring 14 chromosome syndrome.
MedLine Citation:
PMID:  23159383     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Ring chromosome 14 [r(14)] is a rare disorder. The aim of this study was to describe two new cases of r(14) drug-resistant epilepsy, and, through an extensive review of literature, highlight those epileptological features which are more commonly found and which may help in early diagnosis, genetic counseling, and treatment. Epilepsy onset in r(14) syndrome takes place during the first year of life; seizures are generalized or focal and less frequently myoclonic. Seizures might be induced by fever. Focal seizures are characterized by staring, eye or head deviation, respiratory arrest, swallowing, and hypertonia/hypotonia or clonic movements. Ictal EEG might show both focal and diffuse discharges. Interictal EEG reveals mainly focal abnormalities. Mental retardation represents a constant feature. Neurological assessment yields a delay in motor skill acquisition and less frequently both pyramidal and cerebellar signs. Dysmorphic features are evident in the majority of cases. Epilepsy associated with r(14) has many features that entail a challenging diagnostic process. The reported cases of r(14)-related epilepsy seem to highlight a series of common elements which may be helpful in pointing the clinician towards a correct diagnosis.
Authors:
Nicola Specchio; Marina Trivisano; Domenico Serino; Simona Cappelletti; Antonio Carotenuto; Dianela Claps; Carlo Efisio Marras; Lucia Fusco; Maurizio Elia; Federico Vigevano
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-13
Journal Detail:
Title:  Epilepsy & behavior : E&B     Volume:  25     ISSN:  1525-5069     ISO Abbreviation:  Epilepsy Behav     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100892858     Medline TA:  Epilepsy Behav     Country:  -    
Other Details:
Languages:  ENG     Pagination:  585-592     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
Neurology Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. Electronic address: nicola.specchio@opbg.net.
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