Associated Papers
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Severe familial paroxysmal exercise-induced dyskinesia.
Tacik P et al.
Journal of Neurology, 2014
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.
Afawi Z et al.
Epilepsia, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG et al.
Brain : a Journal of Neurology, 2010
Genetics of paroxysmal dyskinesias.
Weber YG et al.
Current Neurology and Neuroscience Reports, 2009
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A et al.
Brain : a Journal of Neurology, 2008
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