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Variability of EEG ‐f MRI findings in patients with SCN1A ‐positive D ravet syndrome
Author(s) -
Moehring Jan,
Spiczak Sarah,
Moeller Friederike,
Helbig Ingo,
Wolff Stephan,
Jansen Olav,
Muhle Hiltrud,
Boor Rainer,
Stephani Ulrich,
Siniatchkin Michael
Publication year - 2013
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12119
Subject(s) - dravet syndrome , ictal , electroencephalography , epilepsy , neuroscience , magnetic resonance imaging , thalamus , default mode network , functional magnetic resonance imaging , epilepsy syndromes , medicine , mutation , psychology , biology , genetics , gene , radiology
Summary Purpose D ravet 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 ( IED s) 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 ‐f MRI ). Time series of IED s were used as regressors for the statistical f MRI 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 IED s could not be detected. Significance The study demonstrates that, despite a common genetic etiology in DS , different neuronal networks underlie the individual IEDs.