Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet
Gia Melikishvili, Thierry Bienvenu, Nazhi Tabatadze, Tamar Gachechiladze, Ekaterine Kurua, Sopio Gverdtsiteli, Mariam Melikishvili, Olivier Dulac
Topics & Concepts
Ketogenic dietKetosisStatus epilepticusKetone bodiesEpilepsyMedicineKetonuriaPediatricsHypsarrhythmiaInternal medicineAnesthesiaEndocrinologyPsychiatryInsulinDiabetes mellitusMetabolismGenetic Syndromes and ImprintingCongenital heart defects researchGenomics and Rare Diseases