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Annals of Neurology|October 28, 2015
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsyMichael G Ricos, Bree L Hodgson, Tommaso Pippucci, et al.Neurology|August 27, 2017
Genetic epilepsy with febrile seizures plus: Refining the spectrumYue-Hua Zhang, Rosemary Burgess, Jodie P Malone, et al.Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.American Journal of Human Genetics|March 1, 2008
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisSamuel F Berkovic, Leanne M Dibbens, Alicia Oshlack, et al.Annals of Neurology|December 18, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutationElena Gardella, Felicitas Becker, Rikke S Møller, et al.Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.Epilepsia|July 1, 2015
Mutations in KCNT1 cause a spectrum of focal epilepsiesRikke S Møller, Sarah E Heron, Line H G Larsen, et al.Pageof 7