A Case of Progressive Chorea Resulting From GLUT1 Deficiency
- PMID: 30363555
- PMCID: PMC6178750
- DOI: 10.1002/mdc3.12191
A Case of Progressive Chorea Resulting From GLUT1 Deficiency
Keywords: GLUT1; ataxia; chorea.
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References
-
- Gras D, Roze E, Caillet S, et al. GLUT1 deficiency syndrome: an update. Rev Neurol 2014;170:91–99. - PubMed
-
- Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res 2012;100:272–277. - PubMed
-
- Schneider SA, Paisan‐Ruiz C, Garcia‐Gorostiaga I, et al. GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias. Mov Disord 2009;24:1684–1688. - PubMed
-
- Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC. The spectrum of movement disorders in GLUT1 deficiency. Mov Disord 2010;25:275–281. - PubMed
-
- Klepper J, Willemsen M, Verrips A, et al. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 2001;10:63–68. - PubMed
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