We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
- Authors
Çolak, Rüya; Özdemir, Senem Alkan; Ergon, Ezgi Yangın; Kağnıcı, Mehtap; Çalkavur, Şebnem
- 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.
- Subjects
CARRIER proteins; SEIZURES (Medicine); GENES; GLUCOSE; GENETIC mutation; RESPIRATORY insufficiency; SPASMS; DISEASE complications; GLUCOSE transporter 1 deficiency syndrome; DIAGNOSIS
- Publication
Balkan Medical Journal, 2017, Vol 34, Issue 6, p580
- ISSN
2146-3123
- Publication type
Article
- DOI
10.4274/balkanmedj.2016.1376