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Dergiler / Balkan Medical Journal / 2017 / Cilt: 34 Sayı: 6

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C

Rüya Çolak
Senem Alkan Özdemir
Ezgi Yangın Ergon
Mehtap Kağnıcı
Şebnem Çalkavur
Sayfa
580–583
Yayın Tarihi
2017-11-01
DOI
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Yapay Zeka Hızlı Bakış & Çıkarımlar

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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain.
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Temel Bulgular & Veri:Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia.
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Sonuç & Katkı:Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Glut 1 deficiency syndrome · neonatal seizures · mutation

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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Bu Makaleye Atıf Yap

Çolak, R., Özdemir, S. A., Ergon, E. Y., Kağnıcı, M., Çalkavur, Ş. (2017). 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/1016225

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Kaynakça (10)

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