PVNH Support & Awareness has partnered with researchers around the globe to help provide improved diagnosis, care and management of neuronal heterotopia disorders, their symptoms and comorbidities to those impacted by these rare malformations of cortical development. Before joining a research study, please get all information upfront, ask questions, and ensure you understand and are comfortable with all aspects of the study before providing consent.
PVNH Support & Awareness has launched a PVNH Research Collaborative Network to pursue more research in PVNH and other neuronal heterotopia disorders. If you are a clinician or researchers interested in joining our efforts, please reach out to us at (info)_ at_ PVNH_support_dot_com
PVNH Phenotype & Epilepsy study (closed)
The results of this study were published in Journal of Neuroly in April 2023:
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
Paliotti, K., Dassi, C., Berrahmoune, S. et al. The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia. J Neurol (2023). https://doi.org/10.1007/s00415-023-11724-z /
PVNH Support & Awareness partnered with Dr. Kenneth Myers and team, from the Research Institute of McGill University Health Centre, to study the PVNH phenotype in individuals affected by epilepsy. Together, we aimed to recruit 100 participants who have a diagnosis of Periventricular Nodular Heterotopia (PVNH) and experience/have experienced seizures. A 30-minute phone interview was conducted by the research team with each participant/parent or guardian in English or French. Participants not fluent in either language could provide an interpreter. This research study focused on both children and adults and was open internationally until the end of June 2021. It also included a bio/databank. The purpose of this research study is to not only develop a comprehensive picture of the phenotypic spectrum of epilepsy in PVNH, but also to identify causative gene defects. For more details and contact information, see the poster above. Should you have questions about your eligibility to participate, please contact Dr. Myers. You can view our first presentation on this research study by clicking on the following link:
https://youtu.be/V1ZYKY6iuq0
