Article
Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway.
Cell reports - 31 Jan 2023
Kim Ye Eun, Kim Yong-Seok, Lee Hee-Eun, So Ki Hurn, Choe Youngshik, Suh Byung-Chang, Kim Joung-Hun, Park Sang Ki, Mathern Gary W, Gleeson Joseph G, Rah Jong-Cheol, Baek Seung Tae
Abstract excerpt
Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous disorder caused by somatic gain-of-function mutations in KRAS or HRAS. LNSS brains have neurodevelopmental defects, including cerebral defects and epilepsy; however, its pathological mechanism and potentials for treatment are largely unclear. We show that introduction of KRASG12V in the developing mouse cortex results in subcortical nodular heterotopia...
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