title: Paroxysmal Nonepileptic Events in Glut1 Deficiency.
abstract: View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events. Fifty-six evaluated questionnaires confirmed this observation in 73% of patients. Events appeared to increase with age, were triggered by low ketosis, sleep deprivation, and physical exercise, and unrelated to sex, hypoglycorrhachia, SLC2A1 mutations, or type of ketogenic diet. We conclude that paroxysmal events are a major clinical feature in Glut1 deficieny, linking the pediatric disease to adult Glut1D-associated exercise-induced paroxysmal dyskinesias.
authors.affiliation: Department of Pediatrics and Neuropediatrics Children's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany.
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
authors.affiliation: Department of Pediatric Neurology University of Essen Essen Germany.
authors.forename: Baerbel
authors.initials: B
authors.lastname: Leiendecker
authors.affiliation: Epilepsy Unit & Children's Epilepsy Surgery Service (CESS) Great Ormond Street Hospital for Children London United Kingdom.
authors.forename: Christin
authors.initials: C
authors.lastname: Eltze
authors.affiliation: Department of Pediatrics and Neuropediatrics Children's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany.
authors.forename: Nicole
authors.initials: N
authors.lastname: Heussinger
keywords: Glut1 deficiency; PEs; Paroxysmal; ketogenic diet; movement disorder