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

Yıl 2017, Cilt: 34 Sayı: 6, 580 - 583, 01.11.2017

Rüya Çolak Senem Alkan Özdemir Ezgi Yangın Ergon Mehtap Kağnıcı Şebnem Çalkavur

Öz

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

Anahtar Kelimeler

Glut 1 deficiency syndrome , neonatal seizures , mutation

Kaynakça

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