| Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. | |
| | |
MedLine Citation:
|
PMID: 21504426 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
Some studies have demonstrated that cognitive decline occurs in Dravet syndrome, starting shortly after the onset of seizures, rapidly progressing and then plateauing within a few years. It is unclear whether children that develop the syndrome had entirely normal cognitive skills before seizure onset, since subtle impairment easily escapes recognition in small infants. It is also difficult to demonstrate whether a recognisable profile of cognitive impairment or a definite behavioural phenotype exists. No clear-cut imaging or neuropathological marker or substrate has been recognised for cognitive impairment in this syndrome. However, there are different potentially causative factors, including the specific effects on the Nav1.1 channels caused by the underlying genic or genomic defect; frequent and prolonged convulsive and non-convulsive seizures or status epilepticus; recurrent subtle ictal phenomena, such as that accompanying pronounced visual sensitivity; the use of antiepileptic drugs with cognitive side effects, especially in heavy multiple-drug therapy; and the restrictions that children with severe epilepsy inevitably undergo. |
| | |
Authors:
|
Renzo Guerrini; Melania Falchi |
Related Documents
:
|
7172756 - Gtg banding is not sufficient for the localization of breakpoints in translocations. 6332296 - Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multip... 2407326 - Non-syndrome multiple supernumerary teeth: literature review. 2860806 - Alimentary tract ganglioneuromatosis-lipomatosis, adrenal myelolipomas, pancreatic tela... 36966 - Lactate administration and fatty liver and kidney syndrome development in biotin-defici... 16567896 - Small intestinal adenocarcinoma in peutz-jeghers syndrome. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Developmental medicine and child neurology Volume: 53 Suppl 2 ISSN: 1469-8749 ISO Abbreviation: Dev Med Child Neurol Publication Date: 2011 Apr |
Date Detail:
|
Created Date: 2011-04-20 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0006761 Medline TA: Dev Med Child Neurol Country: England |
Other Details:
|
Languages: eng Pagination: 11-5 Citation Subset: IM |
Copyright Information:
|
© 2011 The Author. Developmental Medicine & Child Neurology © 2011 Mac Keith Press. |
Affiliation:
|
Paediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Viale Pieraccini, Firenze, 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: Molecular genetics of Dravet syndrome.
Next Document: Current therapeutic procedures in Dravet syndrome.