Classification of missense variants in the N-methyl-D-aspartate receptor GRIN gene family as gain- or loss-of-function
- Scott J Myers, Hongjie Yuan, Riley E Perszyk, …, Dennis Lal, Timothy A Benke, Stephen F Traynelis
- Hum Mol Genet, 10.1093/hmg/ddad104
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population
- Linnaeus Bundalian, Yin-Yuan Su, Siwei Chen, …, Chen-Ching Lin, Johannes R Lemke, Diana Le Duc
- Am J Hum Genet, 10.1016/j.ajhg.2023.06.004
Technological and computational approaches to detect somatic mosaicism in epilepsy
- Christian M Boßelmann, Costin Leu, Dennis Lal, …, Christian M Boßelmann, Costin Leu, Dennis Lal
- Neurobiol Dis, 10.1016/j.nbd.2023.106208
Scanning mutagenesis of the voltage-gated sodium channel Na V 1.2 using base editing
- Juan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, …, Dennis Lal, Alfred L George, Jen Q Pan
- Cell Rep, 10.1016/j.celrep.2023.112563
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
- Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, …, Michael Nothnagel, Patrick May, Dennis Lal
- Bioinformatics, 10.1093/bioinformatics/btad290
Are AI language models such as ChatGPT ready to improve the care of individuals with epilepsy?
- Christian M Boßelmann, Costin Leu, Dennis Lal, …, Christian M Boßelmann, Costin Leu, Dennis Lal
- Epilepsia, 10.1111/epi.17570
Data-driven historical characterization of epilepsy-associated genes
- Marie Macnee, Eduardo Pérez-Palma, Javier A López-Rivera, …, Patrick May, Rikke S Møller, Dennis Lal
- Eur J Paediatr Neurol, 10.1016/j.ejpn.2022.12.005
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
- Carmen Barba, Ingmar Blumcke, Melodie R Winawer, …, Stéphanie Baulac, Annapurna Poduri, Renzo Guerrini
- Neurology, 10.1212/wnl.0000000000201471
Delineation of functionally essential protein regions for 242 neurodevelopmental genes
- Sumaiya Iqbal, Tobias Brünger, Eduardo Pérez-Palma, …, David Hoksza, Patrick May, Dennis Lal
- Brain, 10.1093/brain/awac381
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population
- Victoria Smuk, Javier A López-Rivera, Costin Leu, …, Javier A López-Rivera, Costin Leu, Dennis Lal
- Eur J Hum Genet, 10.1038/s41431-022-01211-w
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
- Javier A López-Rivera, Costin Leu, Marie Macnee, …, Imad Najm, Ingmar Blümcke, Dennis Lal
- Brain, 10.1093/brain/awac376
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
- Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, …, Stephen F Traynelis, Patrick May, Dennis Lal
- Brain, 10.1093/brain/awac305
Gene variant effects across sodium channelopathies predict function and guide precision therapy
- Andreas Brunklaus, Tony Feng, Tobias Brünger, …, Sameer M Zuberi, Dennis Lal, Stephanie Schorge
- Brain, 10.1093/brain/awac006