TY - JOUR
T1 - Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy
T2 - A novel GLUT-1 mutation with benign phenotype
AU - Bovi, Tommaso
AU - Fasano, Alfonso
AU - Juergenson, Ina
AU - Gellera, Cinzia
AU - Castellotti, Barbara
AU - Fontana, Elena
AU - Tinazzi, Michele
PY - 2011/7
Y1 - 2011/7
N2 - Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. PED has been recently described as a possible clinical manifestation of mutations of SLC2A1 gene, encoding for the glucose transport GLUT-1. We report a case of a young woman with a mild form of PED associated with self-limiting partial epilepsy. She carries a novel sporadic heterozygous mutation of the SLC2A1 gene. Diagnostic difficulties and possible treatment with carbamazepine are discussed.
AB - Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. PED has been recently described as a possible clinical manifestation of mutations of SLC2A1 gene, encoding for the glucose transport GLUT-1. We report a case of a young woman with a mild form of PED associated with self-limiting partial epilepsy. She carries a novel sporadic heterozygous mutation of the SLC2A1 gene. Diagnostic difficulties and possible treatment with carbamazepine are discussed.
KW - Epilepsy
KW - GLUT-1 deficiency syndrome
KW - Paroxysmal exercise-induced dystonia
UR - http://www.scopus.com/inward/record.url?scp=79959364690&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79959364690&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2011.03.015
DO - 10.1016/j.parkreldis.2011.03.015
M3 - Article
C2 - 21530357
AN - SCOPUS:79959364690
VL - 17
SP - 479
EP - 481
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
IS - 6
ER -