Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.
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.
Urbizu
Aintzane
A
Grup de Recerca en Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Cuenca-León
Ester
E
Raspall-Chaure
Miquel
M
Gratacòs
Margarida
M
Conill
Joan
J
Redecillas
Susana
S
Roig-Quilis
Manuel
M
Macaya
Alfons
A
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*
D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human