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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Fig. 1

Electroencephalogram (EEG) and mutation status of the SCN9A gene in cases II.1 and II.2 associated to GEFS+ phenotypic spectrum. a-p: EEG evolution of the two sisters starting from 1 to 13–14 years of age. P: Theta rhythm (4-5 Hz) in the temporo-occipital regions (T5-O1; T6-O2) in case II.1, at 1 year of age. q: Pedigree of the family under study. Mutation status of the SCN9A gene is indicated beneath symbols for each subject. Sanger sequencing of cases II.1 and II.2: arrow indicates the presence of the c.1964A > G: p.(Lys655Arg) mutation

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