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Frontiers in Neurology|June 7, 2021
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut SyndromeLuigi Francesco Iannone, Gabriele Arena, Domenica Battaglia, et al.Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.Nature Genetics|May 5, 2015
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate exportAndrea Legati, Donatella Giovannini, Gaël Nicolas, et al.American Journal of Human Genetics|July 30, 2022
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse modelAntonio Vitobello, Benoit Mazel, Vera G Lelianova, et al.American Journal of Human Genetics|November 12, 2013
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeArvid Suls, Johanna A Jaehn, Angela Kecskés, et al.Journal of Inherited Metabolic Disease|November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyCurtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.Epilepsia|April 11, 2019
The spectrum of intermediate SCN8A-related epilepsyKatrine M Johannesen, Elena Gardella, Alejandra C Encinas, et al.Neurology|March 22, 2022
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic VariantsNiklas Schwarz, Simone Seiffert, Manuela Pendziwiat, et al.Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.Pageof 68