title: Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.
abstract: We report two monochorionic twins that progressively developed, between ages 5 and 10, a combination of episodic neurological disorders including paroxysmal exercise-induced dyskinesia, migraine without or with aura, absence seizures and writer's cramp. CSF/serum glucose ratio was moderately decreased in both patients. Mutational analysis of SLC2A1 gene identified a de novo heterozygous missense mutation in exon 4. This novel mutation has been previously showed to disrupt glucose transport in vitro. Both patients showed immediate and near-complete response to ketogenic diet. This clinical observation suggests that a high index of suspicion for GLUT1 deficiency syndrome is warranted in evaluating patients with multiple neurological paroxysmal events.
authors.affiliation: Grup de Recerca en Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Aintzane
authors.initials: A
authors.lastname: Urbizu
authors.forename: Ester
authors.initials: E
authors.lastname: Cuenca-León
authors.forename: Miquel
authors.initials: M
authors.lastname: Raspall-Chaure
authors.forename: Margarida
authors.initials: M
authors.lastname: Gratacòs
authors.forename: Joan
authors.initials: J
authors.lastname: Conill
authors.forename: Susana
authors.initials: S
authors.lastname: Redecillas
authors.forename: Manuel
authors.initials: M
authors.lastname: Roig-Quilis
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
mesh_terms: D002648:Child; D002819:Chorea / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D004252:DNA Mutational Analysis; D055423:Diet, Ketogenic / Q000379:methods; D004200:Diseases in Twins; D020821:Dystonic Disorders / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D004832:Epilepsy, Absence / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008881:Migraine Disorders / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human