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Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.Nature Genetics|December 25, 2007
Closing gaps in the human genome with fosmid resources generated from multiple individualsDonald Bovee, Yang Zhou, Eric Haugen, et al.HGG Advances|May 3, 2021
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.American Journal of Human Genetics|April 29, 2008
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive proteinAlexander P Reiner, Mathew J Barber, Yongtao Guan, 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 38