Abstract
The facilitative glucose transporter-1 (GLUT1) deficiency or de Vivo syndrome is a rare neuropediatric disorder characterized by drug-resistant epilepsy, acquired microcephaly, delayed psychomotor development, intermittent ataxia, and other paroxysmal neurological disorders due to the presence of dominant mutations in the SLC2A1 gene. Alternating hemiplegia of childhood (AHC) is another rare neuropediatric disorder characterized by episodes of hemiplegia developing during the first 1.5 years of life. Before the recent finding of the gene ATP1A3 as the major cause of AHC, a heterozygous missense mutation in the SLC2A1 gene encoding GLUT1 was described in one child with atypical AHC, suggesting some clinical overlap between AHC and GLUT1 deficiency syndrome (GLUT1DS1). Half of patients with symptoms evocative of GLUT1DS1 with hypoglycorrhachia and up to 25 % of patients with AHC remain molecularly undiagnosed. We investigated whether mutations in SLC2A3 encoding GLUT3, another glucose transporter predominant in the neuronal cell, may account the case of a cohort of 75 SLC2A1 negative GLUTDS1-like patients and seven patients with AHC who were negative for ATP1A3 and SLC2A1 mutations. Automated Sanger sequencing and qPCR analyses failed to detect any mutation of SLC2A3 in the patients analyzed, excluding this gene as frequently mutated in patients with GLUT1DS1 like or AHC.
Competing interests: None declared
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Acknowledgments
We thank all the participating families and physicians. We thank the ENRAH for SMEs consortium supported by grant (LSSM-CT-2005-516513 ENRAH for SMEs) of the European Commission Research Programme FP6, especially its validation committee, for the clinical validation on the patients with AHC. This work was funded by “La fondation Jerome Lejeune”, l’association française contre les myopathies (AFM), and “l’association française de l’hémiplégie alternante de l’enfant” (AFHA).
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Communicated by: Daniela Karall
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Synopsis
No mutation found in the SLC2A3 gene in cohorts of 75 GLUT1 deficiency syndrome–like patients negative for SLC2A1 and in seven patients with AHC negative for ATP1A3 and SLC2A1.
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C Le Bizec, S Nicole, E Panagiotakaki, N Seta, and S Vuillaumier-Barrot declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki declaration of 1975, as revised in 2000.
Informed consent was obtained from all patients for being included in the study.
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C Le Bizec did the work (technical results). S Nicole, E Panagiotakaki, N Seta, and S Vuillaumier-Barrot planned, conducted, and reported the work.
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Bizec, C.L., Nicole, S., Panagiotakaki, E., Seta, N., Vuillaumier-Barrot, S. (2013). No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3 . In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 12. JIMD Reports, vol 12. Springer, Cham. https://doi.org/10.1007/8904_2013_253
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DOI: https://doi.org/10.1007/8904_2013_253
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