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Brain Communications|November 26, 2020
Current knowledge of SLC6A1-related neurodevelopmental disordersKimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, et al.
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
CRISPR-mediated transcriptional activation as a mutation-independent therapeutic strategy for SYNGAP1-related intellectual disabilityLaura Sichlinger, Molly B Reilly, Sakshi Arora, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|May 5, 2019
Treatment Responsiveness in KCNT1-Related EpilepsyMark P Fitzgerald, Martina Fiannacca, Douglas M Smith, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, 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.
American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
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