From genotype to phenotype in Dravet disease

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• 作者：Svetlana Gataullina^a ; ^b ; ^c ; ^d ; ^e ; ^{svetlana.gataullina@yahoo.fr} ; Olivier Dulac^a ; ^b ; ^c ; ^d
• 关键词：Dravet syndrome ; Status epilepticus ; SCN1A ; NaV1.1 ; GABAergic neurons
• 刊名：Seizure
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：44
• 期：Complete
• 页码：58-64
• 全文大小：950 K
• 卷排序：44

文摘

Pathophysiology explains not only epilepsy phenotype of Dravet syndrome but also non-epileptic features, and this condition should therefore be considered a disease. Other genes than SCN1A produce the Dravet syndrome phenotypes but clinical reports do not provide data regarding non epileptic features. The therapeutic strategy for Dravet syndrome should be modified, questioning chronic use of benzodiazepines. To improve full-blown phenotype of Dravet disease requires targeting NaV1.1 channels modulation, including SCN1A gene therapy.