clinical vignette steroid associated electroclinical improvement in kcnq2 developmental and epileptic encephalopathy caused by the rare p thr194ile variant

Original title: “Clinical vignette: Steroid-associated electroclinical improvement in KCNQ2 developmental and epileptic encephalopathy caused by the rare p.Thr194Ile variant.”

phenotypic and transcriptomic characterization of biallelic rnu2 2 developmental and epileptic encephalopathy

Original title: “Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.”

de novo nr2f1 c 330 c a variant in bosch boonstra schaaf optic atrophy syndrome presenting with early onset developmental and epileptic encephalopathy

Original title: “A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.”

optical genome mapping identifies previously undetected causal variants in early onset developmental epileptic encephalopathies

Original title: “Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.”