Y G Weber
Becker F, Schubert J, Weckhuysen S, Suls A, GrÃ¼ninger S, Korn Merker E, et al
. Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?. Epilepsy Res. 2015;114:47-51 pubmed publisher
..Unfortunately, we could not detect any mutations in SLC2A1. The exact action mechanisms of KD in pharmaco-resistant epilepsy are not well understood, but bypassing the Glut1 transporter seems not to play an important role. ..
Lal D, SteinbrÃ¼cker S, Schubert J, Sander T, Becker F, Weber Y, et al
. Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res. 2015;115:95-9 pubmed publisher
..These findings suggest that mutations in GRIN2A preferentially are involved in genetic variance of pediatric IFE and do not contribute significantly to either adult focal epilepsies as TLE or generalized epilepsies. ..
Koch H, Weber Y. The glucose transporter type 1 (Glut1) syndromes. Epilepsy Behav. 2019;91:90-93 pubmed publisher
..This article is part of the Special Issue "Individualized Epilepsy Management: Medicines, Surgery and Beyond". ..
Boon P, Vonck K, van Rijckevorsel K, El Tahry R, Elger C, Mullatti N, et al
. A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation. Seizure. 2015;32:52-61 pubmed publisher
..Despite the moderate effects on seizure frequency, combined open- and closed-loop VNS may provide valuable improvements in seizure severity and QOL in refractory epilepsy patients. ..
Kudin A, Baron G, Zsurka G, Hampel K, Elger C, Grote A, et al
. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic Biol Med. 2017;106:270-277 pubmed publisher
..The mutant fibroblasts were also found to be less resistant to a hydrogen peroxide challenge. Our data agree with a potential role of insufficient ROS detoxification for disease manifestation in genetic generalized epilepsy. ..