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.
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1. Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood–brain barrier hexose carrier. Nat Genet 1998; 18: 188-191.
2. Woo SB, Lee KH, Kang HC, Yang H, De Vivo DC, Kim SK. First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation. Gene 2012; 506: 380-382.
3. Takahashi S, Ohinata J, Suzuki N, et al. Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: a successful use of zonisamide for controlling the seizures. Epilepsy Res 2008; 80: 18-22.
4. Leen WG, Klipper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010; 133: 655-670.
5. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep 2013; 13: 342.
6. Ito Y, Takahashi S, Kagitani-Shimono K, et al. Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1 DS) in Japan. Brain Dev 2015; 37: 780-789.
7. Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 2005; 57: 111-118.
8. Yang H, Wang D, Engelstad K, et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol 2011; 70: 996-1005.
9. Gökben S, Yılmaz S, Klepper J, Serdaroğlu G, Tekgül H. Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene. Epilepsy Behav 2011; 21: 200-202.