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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome
📌 3 Key Takeaways
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Objective & Hypothesis:Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain.
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Key Findings & Data:Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia.
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Conclusion & Impact:Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
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
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Cite This Article
KAĞNICI, M., ÇOLAK, R., ÖZDEMİR, S. A., ERGON, E. Y., ÇALKAVUR, Ş. (2022). A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Medical Journal, Cilt: 34 - Sayı: 6, 580–583. https://ajindex.com/articles/461189