Variants in associated with cancer and rare developmental and epileptic encephalopathy.

RHOBTB2 is a member of the Rho GTPases subfamily of signaling proteins, known tumor suppressors whose loss of function and decreased expression is associated with cancer onset. Beyond its cancer-related role, RHOBTB2 is implicated in rare neurodevelopmental disorders, specifically -related disorders, recognized in 2018 as a subtype of developmental and epileptic encephalopathies (DEE). Common symptoms of these disorders include early-onset epilepsy, severe intellectual disability, microcephaly, and movement disorders.

A Proactive Telephonic Outreach Program to Address Unmet Social Needs of Children in Immigrant and Refugee Families at a Federally Qualified Health Center.

Objective: We developed a telephonic outreach and care coordination program for children in immigrant and refugee families (CIRF) at a federally qualified health center (FQHC) in North Carolina to address unmet health-related social needs (HRSN).

Methods: Participants were recruited between December 2020 and October 2021. Eligible children were ages 0-5, non-English speaking, and were seen at the FQHC in the 2 years prior.

Directional Stimulus-Evoked Pallidal Electrophysiology in Primary Dystonia.

Background: Deep brain stimulation for dystonia improves motor symptoms but variable and delayed responses challenge patient selection, targeting, and device programming.

Case Report: Here we studied intracranial electrophysiology in a patient with primary dystonia and observed evoked resonant neural activity (ERNA) in the globus pallidus interna. These local stimulus-evoked potentials displayed refractory periods and paired-pulse facilitation at clinically relevant interstimulus intervals.

Systematized Serendipity: Fishing Expeditions for Anesthetic Drugs and Targets.

Most of science involves making observations, forming hypotheses, and testing those hypotheses, to form valid conclusions. However, a distinct, longstanding, and very productive scientific approach does not follow this paradigm; rather, it begins with a screen through a random collection of drugs or genetic variations for a particular effect or phenotype. Subsequently, the identity of the drug or gene is determined, and only then are hypotheses formed and the more standard scientific method employed.