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Epilepsia|May 1, 2014
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutationLaura Canafoglia, Michela Morbin, Vidmer Scaioli, et al.
Epilepsia|October 24, 2006
Exploration of the genetic architecture of idiopathic generalized epilepsiesAnne Hempelmann, Kirsten P Taylor, Armin Heils, 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.
Epilepsia Open|August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in TasmaniaTyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Epilepsia|September 5, 2015
A definition and classification of status epilepticus--Report of the ILAE Task Force on Classification of Status EpilepticusEugen Trinka, Hannah Cock, Dale Hesdorffer, et al.
Neurology|August 27, 2017
Genetic epilepsy with febrile seizures plus: Refining the spectrumYue-Hua Zhang, Rosemary Burgess, Jodie P Malone, et al.
Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.
Seizure|February 24, 2022
Diagnostic delay in focal epilepsy: Association with brain pathology and ageMengjiazhi Yang, K Meng Tan, Patrick Carney, et al.
Neurology|May 26, 2021
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Annals of Clinical and Translational Neurology|September 5, 2015
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsyMichael S Hildebrand, Rick Tankard, Elena V Gazina, et al.
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