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The SCN1A gene, early epilepsies, and genotype/phenotype correlation
Last modified: 2014-04-03
Abstract
INTRODUCTION: Mutations of the SCN1A gene generate variables epileptic phenotypes and in 90% of the cases arerelated to: Generalized epilepsy with febrile seizures plus, Dravet syndrome and its clinical variations and Intractable epilepsy of childhood with generalized tonic-clonic seizures that simulates Dravet Syndrome OBJECTIVES and MATERIALS: Description of 3 patients with mutations of the gene SCN1A at different alleles, ages 5 to 21 years, who have the common history of multiple seizures types, in clusters, refractory to AEDs, some of them related to fever or other precipitants, associated with late onset of different degrees of Mental Retardation, normal Neuroimaging and variable EEG abnormalities. And 1 patient with PCDH 19gene mutation with similar clinical presentation as Dravet Syndrome.DISCUSSION: 1. Variability of the mutations of the SCN1A gene in relation to genotype / phenotype. 2.Retrospective diagnosis in adults. 3. Mild forms of Dravet S. 4. Genetic Epilepsies not SCN1A mutation related simulating Dravet S. 5. Importance of gene diagnosis and future treatment implications
Keywords
Dravet Syndrome , early epilepsies, recurrent febrile seizures
References
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