期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 295, 期 1-2, 页码 110-113出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2010.05.017
关键词
GLUT1; SLC2A1; Paroxysmal dyskinesia; Absence epilepsy; Migraine; Writer's cramp; Ketogenic diet
资金
- AGAUR (Spain) [2009 SGR78]
- Fundacio La Marato TV3 [062710]
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. (C) 2010 Elsevier B.V. All rights reserved.
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