Fig. 1

EEG and MRI abnormality and genotype of a patient with epileptic encephalopathy (EE). a Ictal EEG shown in a referential montage demonstrates rhythmic generalized and bi-posterior quadrant spike and wave and polyspike and wave discharges which were time-locked with eyelid myoclonia. b T2-weighted MRI brain at age 4 demonstrates mild periventricular leukomalacia and non-progressive ventriculomegaly. c Sanger confirmation of variant, including confirmation of absence from both biological parents, was performed. These electropherograms illustrate the proband’s GABRA1 c.640C > T; p.Arg214Cys pathogenic variant compared with that of her parents (wild type)