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Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Neurology|February 10, 2019
Clinical spectrum of STX1B-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Genome Medicine|September 17, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosisDaniel Kaschta, Christina Post, Franziska Gaass, et al.
Nature Genetics|August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikesJohannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.
Brain : a Journal of Neurology|April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersMarkus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
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