Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsy

Abstract excerpt

Glut-1 deficiency syndrome was first described in 1991 as a sporadic clinical condition, later shown to be the result of haploinsufficiency. We now report a family with Glut-1 deficiency syndrome affecting 5 members over 3 generations. The syndrome behaves as an autosomal dominant condition. Affected family members manifested mild to severe seizures, developmental delay, ataxia, hypoglycorrhachia, and decreased...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Diet and metabolism studies
• Share to Electrolyte and hormonal disorders
• Share to Vitamin C and Antioxidants Research