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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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785666 | PMC |
| http://dx.doi.org/10.4274/balkanmedj.2016.1376 | DOI Listing |
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