Genetic data and representative EEGs of cases with CSMD1 variants. (IMAGE)
Caption
(A) Pedigrees of the cases with CSMD1 variants and their corresponding phenotypes. (B) DNA sequence chromatogram of the CSMD1 variants. The arrows indicate the positions of the variants. (C) Interictal EEG of case 1 at 6 years old showed generalized polyspikes, polyspike-slow waves, and multifocal spike waves. (D) Interictal EEG of case 2 at 20 years old showed generalized spike-slow waves, with dominance in the frontal lobe. (E) Interictal EEG of case 3 at 7 years old showed multifocal spike-slow waves and irregular generalized spike-slow waves. (F) EEG of case 6 at 15 years old showed slow waves in the background (left) and interictal generalized spike-slow waves (right). EEG, electroencephalogram.
Credit
Genes & Diseases
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