ISSN : 2146-3123
E-ISSN : 2146-3131

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
Rüya Çolak 1, Senem Alkan Özdemir 1, Ezgi Yangın Ergon 1, Mehtap Kağnıcı 2, Şebnem Çalkavur 1
1Department of Neonatology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey
2Department of Pediatric Metabolism, Dr. Behçet Uz Children's Hospital, İzmir, Turkey
DOI : 10.4274/balkanmedj.2016.1376

Background:Neonatal seizures can be the first symptom of the inborn errors of metabolism. Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. GLUT1DS patient presents with infantile seizures with resistant to traditional seizure medications, developmental delay, acquired microcephaly, spasticity and ataxia. 
Case Report:Here, we report a rare case of Glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest. 
Conclusion:This is a new pathogenic variant involving the SLC2A1 gene and expands the pathogenic variant spectrum in GLUT1DS. 

Keywords : Glut 1 deficiency syndrome, neonatal seizures, Turkey, case reports, mutation
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