Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Case presentation: We conducted a descriptive study of 4 cases with GLUT1 Deficiency (Glut1D) diagnosed in our service the past 2 years. The diagnosis was established by: hypoglycorrhachia, clinical symptoms and SLC2A1 mutation. Our first patient, 4-year-old boy, presented developmental delay, hypotonia, myoclonic jerks drop attacks at 11 months age. MRI brain image showed bilateral hippocampal atrophy. Valproic acid clobazam were started partial seizures control. After introduction ketogenic diet (KD), patient achieved full seizure control, anti-seizures drugs discontinued. second case is 7-year-old 3 age, characterized by generalized hypotonia eye deviation. He had delay motor language milestones failed to achieve control despite treatment oxcarbazepine, valproic levetiracetam. initiation KD, better an improvement muscle tone, speech coordination noticed. third 2-year-old girl, tonic-clonic life. Diagnosis Glut1D right after seizures, she excellent levetiracetam KD. Her development has been normal since. A 5-year-old girl fourth case, gait disturbance noticed around 1 year Treatment seizures. years later, KD associated