A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder
Related Experiment Video
Updated: Jan 17, 2026
08:44
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
Published on: October 17, 2025
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Mohamed S Abdel-Hamid1, Samer H ElKhayat2, Ghada M H Abdel-Salam3
1Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Clinical Genetics
|September 25, 2025
Abstract:
We describe a new patient with the recently described BORCS8-related neurodevelopmental disorder. The clinical and brain imaging features are similar to the previous report and reinforce BORCS8 as a molecule fundamental to normal human development.
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