Lacey Smith

TL;DR: A recurrent pathogenic variant in AP2M1 is established as a cause of DEEs with distinct phenotypic features, and dysfunction of the early steps of endocytosis as a disease mechanism in epilepsy is implicate.

TL;DR: The yield of systematic analysis and/or reanalysis of whole exome sequencing data from a cohort of well‐phenotyped pediatric patients with epilepsy and suspected but previously undetermined genetic etiology is evaluated.

TL;DR: To characterize the features associated with PCDH19‐related epilepsy, also known as “female‐limited epilepsy,” the objective was to establish a smoking cessation procedure and establish a baseline for this procedure in women.

TL;DR: In this paper, the authors identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals, characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism.

TL;DR: De novo missense variants clustering in the BTB-domain-encoding region of RHOBTB2 are established as causative for a developmental and epileptic encephalopathy and the role of atypical Rho GTPase RhoBTB in Drosophila neurological function and possibly dendrite development is elucidated.