Mouse Study Separates Liver and Brain Contributions to Inherited Epilepsy
Published in Brain/Neurology, Diseases!, Journals.
Publication date: October 10, 2026.
Johns Hopkins Medicine announced on October 9 that a mouse study in Science Advances separated liver-driven seizure susceptibility from brain-driven behavioral changes in a model of pyridoxine-dependent epilepsy, an inherited disorder involving ALDH7A1.
Researchers selectively removed the gene from liver cells or astrocytes, the brain’s support cells. Liver-specific loss increased seizure susceptibility without the behavioral deficits seen after whole-body loss. Astrocyte-specific loss produced behavioral changes without increased seizure susceptibility.
Astrocyte ALDH7A1 deficiency disrupted antioxidant defenses and was associated with reduced neuronal activity in the prelimbic cortex. Dietary sulforaphane, which activates the NRF2 protective pathway, improved the behavioral phenotype. It did not correct increased seizure susceptibility in mice lacking ALDH7A1 throughout the body.
The findings suggest that different tissues can contribute distinct symptoms of one genetic disorder. These are animal results: they do not establish sulforaphane’s safety or effectiveness for psychiatric symptoms in people with this condition. Human studies would be needed.
Source: Johns Hopkins Medicine, October 9, 2026. Research: Science Advances, DOI: 10.1126/sciadv.aef6777.