| Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. | |
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MedLine Citation:
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PMID: 20643614 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-07-19 |
Journal Detail:
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Title: Epileptic disorders : international epilepsy journal with videotape Volume: 12 ISSN: 1294-9361 ISO Abbreviation: Epileptic Disord Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-08 Completed Date: 2010-10-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100891853 Medline TA: Epileptic Disord Country: France |
Other Details:
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Languages: eng Pagination: 222-7 Citation Subset: IM |
Affiliation:
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Neuropsichiatria Infantile, Ospedale Maggiore, Bologna, Italy. giovanninisimona@libero.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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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