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Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Epilepsia|November 6, 2015
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndromeJan Larsen, Katrine Marie Johannesen, Jakob Ek, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Human Molecular Genetics|February 19, 2015
Galanin pathogenic mutations in temporal lobe epilepsyMichel Guipponi, Amina Chentouf, Kristin E B Webling, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Structural genomic variation in childhood epilepsies with complex phenotypesIngo Helbig, Marielle E M Swinkels, Emmelien Aten, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 21, 2016
Idiopathic focal epilepsies: the "lost tribe"Deb K Pal, Colin Ferrie, Laura Addis, et al.
Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
American Journal of Human Genetics|March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early ChildhoodF-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
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