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

Abstract excerpt

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...

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