Progress in Understanding and Treating SCN2A-Mediated DisordersStephan Sanders, Kevin J. Bender, Wendy K. Chung et al.|Trends in Neurosciences|2018Cited by 339
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Anna-Elina Lehesjoki, Hongjie Yuan et al.|Journal of Medical Genetics|2017Cited by 254
Defining the phenotypic spectrum of <i>SLC6A1</i> mutationsKatrine M. Johannesen, Guido Rubboli, Elena Gardella et al.|Epilepsia|2018Cited by 151
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, E. Grau Garcia, Bernt Popp et al.|Genetics in Medicine|2023Cited by 16