A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
Journal Title: Balkan Medical Journal - Year 2017, Vol 34, Issue 6
Abstract
Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, 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 new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome.
Authors and Affiliations
Rüya Çolak, Senem Alkan Özdemir, Ezgi Yangın Ergon, Mehtap Kağnıcı, Şebnem Çalkavur
Keywords
Related Articles
- EP ID EP380526
- DOI 10.4274/balkanmedj.2016.1376
- Views 75
- Downloads 0
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