A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient

Özet

GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolicencephalopathy that is probably underdiagnosed. Although developmentaldelay, acquired microcephaly, spasticity, and impaired coordination wereinitially described as the classic findings, mild cases with no pronouncedneuromotor compromise have since been included in the broad clinicalspectrum with new mutations being identified more recently. We report acase of myoclonic seizures not responding to anti-epileptics since the age ofone year in a 17-year-old patient with a normal phenotype and neuromotordevelopment. Previously unreported p.Phe389Leu mutation was determinedin the SLC2A1 gene in our patient. This case will be useful in clarifying thephenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.