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Scientific Reports|October 5, 2017
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signallingJames Hughes, Ruby Dawson, Melinda Tea, et al.
Epilepsia|November 5, 2011
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutationsGuido Rubboli, Silvana Franceschetti, Samuel F Berkovic, et al.
Brain & Development|November 8, 2012
PRRT2 mutation in Japanese children with benign infantile epilepsyAkihisa Okumura, Keiko Shimojima, Tetsuo Kubota, et al.
Annals of Neurology|September 13, 2025
Identification of New KCNT1-Epilepsy Drugs by In Silico, Cell, and Drosophila ModelingMichael G Ricos, Bethan A Cole, Rashid Hussain, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 21, 2010
Detection of microchromosomal aberrations in refractory epilepsy: a pilot studyJacinta M McMahon, Ingrid E Scheffer, Jillian K Nicholl, et al.
Neurology|September 27, 2013
Copy number variants are frequent in genetic generalized epilepsy with intellectual disabilitySaul A Mullen, Gemma L Carvill, Susannah Bellows, et al.
Bioresearch Open Access|March 22, 2013
Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient SubjectsKurt Gleich, Michael J Desmond, Darren Lee, et al.
Annals of Clinical and Translational Neurology|March 9, 2019
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutationsGuido Rubboli, Giuseppe Plazzi, Fabienne Picard, et al.
International Journal of Molecular Sciences|December 11, 2022
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal ActivityGrigori Y Rychkov, Zeeshan Shaukat, Chiao Xin Lim, et al.
American Journal of Human Genetics|December 19, 2001
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plusLouise A Harkin, David N Bowser, Leanne M Dibbens, et al.
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