title: Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  The study demonstrates that, despite a common genetic etiology in DS, different neuronal networks underlie the individual IEDs.
authors: Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany. jan.moehring@uk-sh.de
authors: Jan
authors: J
authors: Moehring
authors: Sarah
authors: S
authors: von Spiczak
authors: Friederike
authors: F
authors: Moeller
authors: Ingo
authors: I
authors: Helbig
authors: Stephan
authors: S
authors: Wolff
authors: Olav
authors: O
authors: Jansen
authors: Hiltrud
authors: H
authors: Muhle
authors: Rainer
authors: R
authors: Boor
authors: Ulrich
authors: U
authors: Stephani
authors: Michael
authors: M
authors: Siniatchkin
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000098:blood supply* / Q000503:physiopathology*; D001931:Brain Mapping; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D010100:Oxygen / Q000097:blood; D055815:Young Adult
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human; D010100:Oxygen