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  • Title: Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.
    Author: Moehring J, von Spiczak S, Moeller F, Helbig I, Wolff S, Jansen O, Muhle H, Boor R, Stephani U, Siniatchkin M.
    Journal: Epilepsia; 2013 May; 54(5):918-26. PubMed ID: 23398550.
    Abstract:
    PURPOSE: Dravet syndrome (DS) or severe myoclonic epilepsy of infancy is an intractable epileptic encephalopathy of early childhood that is caused by a mutation in the SCN1A gene in most patients. The aim of this study was to identify a syndrome-specific epileptic network underlying interictal epileptiform discharges (IEDs) in patients with DS. METHODS: Ten patients with the diagnosis of DS associated with mutations in the SCN1A gene were investigated using simultaneous recording of electroencephalography and functional magnetic resonance imaging ((EEG-fMRI). Time series of IEDs were used as regressors for the statistical fMRI analysis. KEY FINDINGS: In nine patients with DS, individual blood oxygenation level-dependent (BOLD) signal changes were seen. In three patients the thalamus was involved. Furthermore, regions of the default mode network were activated in seven patients. However, a common activation pattern associated with IEDs could not be detected. SIGNIFICANCE: The study demonstrates that, despite a common genetic etiology in DS, different neuronal networks underlie the individual IEDs.
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