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American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.Neurology|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.European Journal of Human Genetics : EJHG|April 9, 2015
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndromeJulián Nevado, Jill A Rosenfeld, Rocío Mena, et al.Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.Pageof 4