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Epilepsia|March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.Epilepsia|April 19, 2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyAilsa McLellan, Hilary A Phillips, Christopher Rittey, 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.Epilepsia|April 11, 2023
Recognition and epileptology of protracted CLN3 diseaseJillian M Cameron, John A Damiano, Bronwyn Grinton, et al.Journal of Paediatrics and Child Health|April 25, 2020
Neuronal ceroid lipofuscinosis type 2: an Australian case seriesAlexandra M Johnson, Simone Mandelstam, Ian Andrews, et al.European Journal of Medical Genetics|October 27, 2019
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalitiesMarie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, et al.Epilepsia|June 23, 2011
A retrospective population-based study on seizures related to childhood vaccinationSarah von Spiczak, Ingo Helbig, Ursula Drechsel-Baeuerle, et al.Archives of Neurology|April 12, 2012
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locusDouglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, et al.European Journal of Human Genetics : EJHG|March 16, 2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyLisa J Ewans, Michael Field, Ying Zhu, et al.Pageof 57