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. [1]
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.