Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

作者：Becker Felicitas; Schubert Julian; Weckhuysen Sarah; Suls Arvid; Grueninger Steffen; Korn Merker Elisabeth; Hofmann Peters Anne; Sperner Juergen; Cross Helen; Hallmann Kerstin; Elger Christian E; Kunz Wolfram S; Madeleyen Rene; Lerche Holger; Weber Yvonne G^*

来源：Epilepsy Research, 2015, 114: 47-51.

DOI：10.1016/j.eplepsyres.2015.04.012

• SLC2A1
• Epilepsy
• Pharmacoresistance
• Antiepileptic drugs
• Glut1 deficiency syndrome
• Genetics

In the recent years, several neurological syndromes related to defects of the glucose transporter type 1 (Glut1) have been descried. They include the glucose transporter deficiency syndrome (Glut1-DS) as the most severe form, the paroxysmal exertion-induced dyskinesia (FED), a form of spastic paraparesis (CSE) as well as the childhood (CAE) and the early-onset absence epilepsy (EOAE). Glut1, encoded by the gene SLC2A1, is the most relevant glucose transporter in the brain. All Glut1 syndromes respond well to a ketogenic diet (KD) and most of the patients show a rapid seizure control. Ketogenic Diet developed to an established treatment for other forms of pharmaco-resistant epilepsies. Since we were interested in the question if those patients might have an underlying Glut1 defect, we sequenced SLC2A1 in a cohort of 28 patients with different forms of pharmaco-resistant epilepsies responding well to a KD. Unfortunately, we could not detect any mutations in SLC2A1. The exact action mechanisms of MD in pharmaco-resistant epilepsy are not well understood, but bypassing the Glut1 transporter seems not to play an important role.

• 出版日期2015-8