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- Title
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness.
- Authors
Giliberto, C.; Reggio, E.; Sofia, V.; Giuliano, L.; Lo Fermo, S.; Barone, R.; Zappia, M.
- Abstract
The article presents a case report of a 19-year-old man who was referred because of a 2-year history of episodic exercise/fasting-induced weakness. The patient reported weakness at fasting during prolonged physical activity since he was an auto-mechanic and had to lift up heavy weights. Based on clinical and electroencephalography findings, he was diagnosed with glucose transporter 1 deficiency syndrome (GLUT1DS). The electroclinical features of the diseased are also discussed.
- Subjects
GLUCOSE transporter 1 deficiency syndrome; INBORN errors of carbohydrate metabolism; FASTING; ASTHENIA; ELECTROENCEPHALOGRAPHY
- Publication
European Journal of Neurology, 2016, Vol 23, Issue 1, pe1
- ISSN
1351-5101
- Publication type
Case Study
- DOI
10.1111/ene.12831