Researchers at University of Melbourne, Australia; University of Florence, Italy; and University of Antwerp, Belgium performed genetic analysis on 84 unrelated probands with myoclonic-astatic epilepsy (MAE). Seizures began at 8 – 48 months of age. EEG showed generalized spike and wave. Cognitive impairment was progressive, except in one patient who received the ketogenic diet early. Four patients had a mutation of SLC2A1 on sequencing. Two patients with MAE and SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood. 
COMMENT. Sequencing of SLC2A1 as part of the workup for MAE is expected to uncover 5% patients who test positive and should be responsive to the ketogenic diet.