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Epilepsia|February 2, 2026
Characterizing early behavioral and social-emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history studyIngrid E Scheffer, M Scott Perry, Joseph Sullivan, et al.Journal of Medical Genetics|July 31, 2017
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsiesEduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|July 21, 2016
Idiopathic focal epilepsies: the "lost tribe"Deb K Pal, Colin Ferrie, Laura Addis, et al.Brain : a Journal of Neurology|October 13, 2022
The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsJavier A López-Rivera, Costin Leu, Marie Macnee, et al.Epilepsia|November 18, 2025
Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history studyJoseph Sullivan, M Scott Perry, Ingrid E Scheffer, et al.Epilepsia|December 4, 2023
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history studyM Scott Perry, Ingrid E Scheffer, Joseph Sullivan, et al.Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.Plos One|March 19, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy SyndromesDennis Lal, Eva M Reinthaler, Borislav Dejanovic, et al.Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.Pageof 15