| Neuroimaging and neuropathology of Dravet syndrome. | |
| | |
MedLine Citation:
|
PMID: 21463276 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
Brain magnetic resonance imaging (MRI) studies in patients with Dravet syndrome and SCN1A mutations have shown abnormal findings in a small minority of patients. The origin of the structural abnormalities--such focal brain atrophy, cortical dysplasia, and hippocampal sclerosis--observed in some children remains unclear. There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life. Recent descriptions of Rasmussen syndrome and of the hemiconvulsion-hemiplegia syndrome in isolated patients with SCN1A mutations are of uncertain meaning but might indicate that co-occurring immunomediated or seizure-induced structural changes can, in turn, become a substrate for the severe epileptic encephalopathy. The few available neuropathologic studies of Dravet syndrome have provided inconsistent findings, including evidence of subtle brain malformation. However, the underlying dysfunction of the SCN1A gene might confer to the brain a unique profile of vulnerability whose consequences are not easily disclosed by neuropathology and require specific experimental settings to be fully appreciated. There would seem to be value in studies in animal models of these aspects, as well as prospective studies in humans, with a particular view to establishing if earlier diagnosis and efforts at seizure control may influence the development of any clinical, imaging, or pathologic deterioration. |
| | |
Authors:
|
Renzo Guerrini; Pasquale Striano; Claudia Catarino; Sanjay M Sisodiya |
Related Documents
:
|
2618826 - Steroid-induced disappearance of primary central nervous system lymphoma. clinical, neu... 7266956 - 5-fluorouracil/chemosurgery for intraepithelial neoplasia of the lower genital tract. 8844746 - Pachydermodactyly in two young girls. 15749326 - Protecting healthcare staff from severe acute respiratory syndrome: filtration capacity... 18390086 - Ovarian endometriotic cyst in a patient with ellis-van creveld's syndrome: case report. 20574986 - The alport syndrome col4a5 variant database. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Epilepsia Volume: 52 Suppl 2 ISSN: 1528-1167 ISO Abbreviation: Epilepsia Publication Date: 2011 Apr |
Date Detail:
|
Created Date: 2011-04-05 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: United States |
Other Details:
|
Languages: eng Pagination: 30-4 Citation Subset: IM |
Copyright Information:
|
Wiley Periodicals, Inc. © 2011 International League Against Epilepsy. |
Affiliation:
|
Children's Hospital A Meyer and University of Florence, Florence, Italy. r.guerrini@meyer.it |
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: The genetics of Dravet syndrome.
Next Document: Cognitive and behavioral characteristics of children with Dravet syndrome: an overview.