Skip to main content

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