| Dravet syndrome - considerable delay in making the diagnosis. | |
| | |
MedLine Citation:
|
PMID: 22050316 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Bremer A, Lossius MI, Nakken KO. Dravet syndrome - considerable delay in making the diagnosis. Acta Neurol Scand: DOI: 10.1111/j.1600-0404.2011.01609.x. © 2011 John Wiley & Sons A/S. Objectives - To assess delay in diagnosis and clinical characteristics of Dravet syndrome based on the Dravet register at The National Centre for Epilepsy in Norway. Material and methods - Medical records of patients diagnosed with Dravet syndrome since 2007 were analysed. Results - Twenty-two patients were identified. In 15, genetic screening disclosed mutations/deletions in the SCN1A gene. Average time from seizure onset to diagnosis was 7.4 years. Mean age at seizure onset was 6.7 months, nine had hemiconvulsions and 13 had generalized tonic-clonic seizures. The seizures were precipitated by fever in 17, by external heating in three. During second year of life, multiple seizure types and cognitive and motoric stagnation occurred. No patients became seizure-free with antiepileptic drugs. The effect of vagal nerve stimulation was disappointing. Conclusions - By making an early diagnosis, an extensive presurgical evaluation may be avoided, and the patient and their parents may be offered genetic guidance. |
| | |
Authors:
|
A Bremer; M I Lossius; K O Nakken |
Related Documents
:
|
22612756 - Paraneoplastic neurological syndromes - diagnosis and management. alternatively "diagno... 12530946 - Current use of transjugular intrahepatic portosystemic shunts. 10749976 - The short stature homeobox gene shox is involved in skeletal abnormalities in turner sy... 3490206 - Combined cytogenetic techniques and non-fluorescent y. cytologic evidences of dic(yp)(q... 22272346 - Interleukin-1 receptor-associated kinase-3 is a key inhibitor of inflammation in obesit... 1957976 - Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (drpla) in childh... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-11-2 |
Journal Detail:
|
Title: Acta neurologica Scandinavica Volume: - ISSN: 1600-0404 ISO Abbreviation: - Publication Date: 2011 Nov |
Date Detail:
|
Created Date: 2011-11-4 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0370336 Medline TA: Acta Neurol Scand Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
© 2011 John Wiley & Sons A/S. |
Affiliation:
|
Division of Surgery and Neuroscience, National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Diabetes and previous stroke: hazards for intravenous thrombolysis?
Next Document: Migraine Attack Frequency, Duration, and Pain Intensity: Disease Burden Derived From a Community-Bas...