AI Article Synopsis
- Researchers from Italy examined 22 patients with GLUT1 deficiency syndrome to compare clinical and genetic features.
- The study focused on two groups: one with familial mutations of the SLC2A1 gene and the other with sporadic mutations.
- The goal was to identify any significant differences between these two groups of patients.
Article Abstract
Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747289 | PMC |
| http://dx.doi.org/10.15844/pedneurbriefs-29-2-5 | DOI Listing |
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