A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
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
Keywords:
Glut 1 deficiency syndrome, neonatal seizures, mutation,
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- ISSN: 2146-3123
- Başlangıç: 2015
- Yayıncı: Erkan Mor