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Table 1 Comparison of reported individuals with a different mutation at the location c.275 + 1 on SLC2A1

From: Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

  This Report, 2020 Ismayilova et al., 2018
Genotype c.275 + 1del c.275 + 1G > A
Clinical Findings Epilepsy, developmental delay, white matter hyperintensities, movement disorders (dystonia and choreoathetosis), microcephaly Epilepsy, developmental delay, white matter hyperintensities, truncal hypotonia
CSF glucose (mg/dL) 32 21.6
CSF/serum ratio 0.36 0.24