| Epilepsy in Prader-Willi syndrome: Clinical characteristics and correlation to genotype. | |
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MedLine Citation:
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PMID: 20727826 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. Twenty-two of these (92%) were affected by focal epilepsy and only two (8%) had generalized epilepsy. The most common seizure type was staring spells (67%). Correlation to genotype analysis showed deletions were more common in patients with epilepsy than in patients without epilepsy. The epilepsy syndromes were easy to control with a single antiepileptic drug in most cases. Three patients (11%) had had febrile seizures. These findings suggest that PWS may be a risk factor for epilepsy, which can manifest with focal features. Patients with PWS with a deletion genotype showed a trend toward developing seizures compared with patients with other genotypes in our series, even though this difference did not achieve statistical significance. |
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Authors:
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Martina Vendrame; Kiran P Maski; Madhumouli Chatterjee; Arezou Heshmati; Kalpathy Krishnamoorthy; Wen-Hann Tan; Sanjeev V Kothare |
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Publication Detail:
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Type: Journal Article Date: 2010-08-21 |
Journal Detail:
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Title: Epilepsy & behavior : E&B Volume: 19 ISSN: 1525-5069 ISO Abbreviation: Epilepsy Behav Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-12-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100892858 Medline TA: Epilepsy Behav Country: United States |
Other Details:
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Languages: eng Pagination: 306-10 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Neurology, Children's Hospital Boston, Boston, MA, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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