|
Title
|
|
|
|
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency
|
|
|
Author
|
|
|
|
|
|
|
Abstract
|
|
|
|
| P>Paroxysmal exercise-induced dyskinesia (PED) and epilepsy without intellectual disability have recently been recognized as manifestations of deficiency of the glucose transporter GLUT1, due to mutations in the gene SLC2A1. We describe a family with six definitely affected members in two generations. Two had PED, three had epilepsy, and one had both. A missense mutation in SLC2A1 (c.950A > C; p.N317T) was detected in five living affected members, but absent in three nonaffected first-degree members and in one subject believed to be a phenocopy. The clinical picture of mild epilepsy with onset in adolescence or early adulthood plus PED should raise a suspicion of GLUT1 deficiency. |
|
|
|
Language
|
|
|
|
English
|
|
|
Source (journal)
|
|
|
|
Epilepsia. - Boston, Mass.
|
|
|
Publication
|
|
|
|
Boston, Mass.
:
2010
|
|
|
ISSN
|
|
|
|
0013-9580
|
|
|
DOI
|
|
|
|
10.1111/J.1528-1167.2010.02726.X
|
|
|
Volume/pages
|
|
|
|
51
:12
(2010)
, p. 2466-2469
|
|
|
ISI
|
|
|
|
000284849000016
|
|
|
Full text (Publisher's DOI)
|
|
|
|
|
|
|
Full text (publisher's version - intranet only)
|
|
|
|
|
|