Article
Dravet syndrome--considerable delay in making the diagnosis.
Acta neurologica Scandinavica - 1 May 2012
Bremer A, Lossius M I, Nakken K O
Abstract excerpt
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...
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