Outcomes and hidden subgroups in WDR45-related disorders

BPAN. WDR45-related disorders are one of the most common X-linked neurodevelopmental disorders. While initially conceptualized within the framework of rare conditions with neurodegeneration with brain iron accumulation, WDR45-related disorders challenge the traditional concept of neurodegenerative conditions. Most individuals are diagnosed in childhood with neurodevelopmental features. However, the full spectrum of the pediatric presentation of WDR45-disorders has not been fully delineated yet. In a recent publication, we delineate the pediatric presentation of WDR45-disorders. We find that typical outcome measures often fail to capture the full range of features in WDR45-related disorders and that there might be two distinct previously not appreciated subgroups. Continue reading

This was epilepsy genetics in 2021 – five things to remember

Looking back. Admittedly, I have not written an end-of-the-year review for a quite some time. However, there were a few notable moments in epilepsy genetics in 2021 that I think were worth remembering. The second year of the COVID-19 pandemic started out as a year of recovery and readjustment, only to run into unanticipated supply chain issues and novel COVID variants hanging over our transition into 2022. The scientific community was affected by these developments in different ways that made progress of science somewhat unpredictable and uneven. 2021 was the year when the phrase “unprecedented times” became stale and overused. Here are five things to remember from 2021, which will be remembered as part of a transitional phase in epilepsy genetics. Continue reading