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Plos One|March 21, 2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresToshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, et al.
Scientific Reports|December 10, 2015
Loss of synaptic Zn2+ transporter function increases risk of febrile seizuresMichael S Hildebrand, A Marie Phillips, Saul A Mullen, et al.
Ebiomedicine|September 11, 2022
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsiesJohanna Krüger, Julian Schubert, Josua Kegele, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|September 21, 2007
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutationYaroslav Teper, Douglas Whyte, Elizabeth Cahir, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
European Heart Journal|April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathyDean G Phelan, David J Anderson, Sara E Howden, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2021
The zebrafish grime mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythmCharlotte D Koopman, Jessica De Angelis, Swati P Iyer, et al.
Epilepsia|February 5, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsyMarsha Tan, Beatrice Southby Goad, Meagan Allen, 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.
Human Molecular Genetics|July 19, 2015
A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosisBen J Gu, Judith Field, Sébastien Dutertre, et al.
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