Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.

The phenotype of familial Glut1-DS shows age-related differences: epilepsy predominates in childhood; PED and fatigue, followed by epilepsy and migraine, characterize the condition in adulthood. Some adults with familial Glut1-DS may lead regular and fulfilling lives, enjoying the same QoL as unaffected individuals. The disorder tends to worsen from generation to generation, with new and more severe symptoms arising within the same family. Epigenetic studies might be useful to assess the phenotypic variability in Glut1-DS.