title: Clinical Variability of GLUT1DS.
abstract: Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).
authors.affiliation: Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.
authors.forename: Anastasia Martinez-Esteve
authors.initials: AM
authors.lastname: Melnikova
authors.affiliation: Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.
authors.forename: Christian M
authors.initials: CM
authors.lastname: Korff
keywords: Epilepsy; GLUT1 deficiency syndrome; Ketogenic diet; Paroxysmal exercise-induced dyskinesia; SLC2A1 gene