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The pathogenesis of ‘nevus sebaceous syndrome’, which causes epilepsy, was first identified by a Korean research team

Kim Yong-seok (left), a student researcher at the Korea Brain Research Institute, and senior researcher Ra Jong-cheol. /Korea Brain Research Institute

For the first time, a Korean research team has revealed the process by which ‘nevus sebaceous glandular syndrome’, one of the causes of epilepsy (a disease formerly known as epilepsy), develops. Linear sebaceous gland nevus syndrome is a disease in which the sebaceous glands that secrete sebum are abnormal, causing small inflamed skin like grains of sand.

The Korea Brain Research Institute announced on the 7th that Jong-chul Ra, a senior researcher in the sensory and motor system research group, and Seung-tae Baek, a professor of life sciences at Pohang University of Science and Technology, identified neuropathological pathogenesis for the first time. linear sebaceous gland nevus syndrome by a collaborative study using laboratory mice. Linear sebaceous gland nevus syndrome is a rare neurological disease that has resulted in refractory brain diseases such as epilepsy and developmental disabilities. However, the detailed pathogenesis has not been confirmed so far.

The joint research team confirmed that the abnormal growth of nerve cells (neurons) in the brains of laboratory mice, leading to an unbalanced state of nerve excitation and inhibition, could be the cause of epilepsy caused by sebaceous gland nevus sebaceous gland syndrome.

The research team inserted a protein mutation gene (KRASG12V) involved in neuronal syndrome into the brains of growing laboratory mice and observed the changes. Then, the excitable neurons injected with the mutant gene became more excitable than normal. In contrast, inhibitory neurons did not work properly. As a result, signs were found that sebaceous gland nevus syndrome develops as nerve excitation and inhibition become imbalanced.

Researcher Ra said, “We expect that this study will be of great help in the development of future treatments in the absence of treatments for neurological symptoms such as epilepsy, heterosis, and focal cortical dysplasia seen in sebaceous gland nevus syndrome.”

This research was published on January 14 in ‘Cell Reports,’ an online sister journal to the international academic journal Cell.

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Cell Reports, DOI: https://doi.org/10.1016/j.celrep.2023.112003