April 2026 Research Update

This month, one real-world study added support that highly purified cannabidiol (CBD) may be linked with fewer seizures for some people with genetic conditions in the 15q11.2-q13.1 region, a group that included Angelman syndrome. The pattern reported was meaningful seizure reduction for many participants, along with generally good tolerability. The study also noted that some families reported improvements beyond seizures, such as sleep or behavior, though this was not described for everyone. [1]

In 22 patients with 15q11.2-q13.1 duplication or deletion syndromes, the study reported an average seizure reduction of 55.7%, and about 64% had at least a 50% reduction. A smaller group reached larger improvements, including about 18% reported as seizure-free during the observation period. A subset also showed improved EEG (a brain-wave test) results. [1]

Side effects did not lead anyone to stop CBD in this report, and most patients stayed on treatment during follow-up. The study also recorded caregiver- or clinician-rated improvement on a global scale in many participants, and a subset reported better sleep, behavior, or attention. Because this was a retrospective review without a comparison group, it cannot show for sure how much of the change was due to CBD versus other factors, but it helps clarify what has been seen in routine care. [1]

For families focused on seizure control in Angelman syndrome, this study adds a clearer picture of how CBD has performed in routine care across multiple centers, including both benefits and tolerability. It may matter now as shared evidence about what some people experienced, but it is not the same as a head-to-head trial that can prove cause and effect. What remains uncertain is how well these results apply specifically to Angelman syndrome (since the group included several 15q-related diagnoses) and which patient features predict who benefits most. [1]

One laboratory-based study this month connected HERC2 (a protein involved in tagging other proteins for recycling) to how the cell's protein-disposal machinery is built and regulated. The overall message is that changes in HERC2 activity can shift how parts of the proteasome (the cell's recycling system) are assembled and how active that system becomes. This helps build a more concrete biological explanation for HERC2-related neurodevelopmental disorder at the cell level, rather than pointing to symptoms alone. [2]

Using protein-measurement methods in cell systems with and without working HERC2 activity, the researchers identified many proteasome components as HERC2-dependent targets for ubiquitin tagging. They reported that HERC2 appears to tag certain unassembled proteasome subunits so they can be broken down, which helps keep proteasome assembly on track. In patient-derived fibroblasts carrying a pathogenic HERC2 variant, the study observed altered processing of proteasome subunits and higher overall proteasome activity. [2]

This work is early, cell-based research, so it does not tell families what will happen with symptoms or treatments. What it adds now is a clearer candidate pathway inside cells: problems in how the proteasome is regulated when HERC2 is altered. What remains uncertain is whether the same proteasome changes occur in brain cells in people, and whether this pathway could eventually guide useful tests or future treatments. [2]