biostudies-literatureUnknown23(10)Zhang XInfantile neuronal ceroid lipofuscinosis (INCL), the most severe form of neuronal ceroid lipofuscinoses, is caused by mutations in the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1). Typical symptoms of this disease include progressive psychomotor developmental retardation, visual failure, seizures, and premature death. Here, we investigated seizure activity and relevant pathological changes in PPT1 knock-in mice (PPT1 KI). The behavior studies in this study demonstrated that PPT1 KI mice had no significant seizure activity until 7 months of age, and local field potentials also displayed epileptiform activity at the same age. The expression levels of Iba-1 and CD68 demonstrated, by Western blot analysis, the inflammatory cytokine TNF-α content measured with enzyme-linked immunosoInternational journal of molecular sciences5586https://www.ebi.ac.uk/biostudies/studies/S-EPMC9144763biostudies-literatureSeizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.PMC9144763Wang MZhang XPeng STong JLu CFeng BZhang QfalseSeizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.Infantile neuronal ceroid lipofuscinosis (INCL), the most severe form of neuronal ceroid lipofuscinoses, is caused by mutations in the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1). Typical symptoms of this disease include progressive psychomotor developmental retardation, visual failure, seizures, and premature death. Here, we investigated seizure activity and relevant pathological changes in PPT1 knock-in mice (PPT1 KI). The behavior studies in this study demonstrated that PPT1 KI mice had no significant seizure activity until 7 months of age, and local field potentials also displayed epileptiform activity at the same age. The expression levels of Iba-1 and CD68 demonstrated, by Western blot analysis, the inflammatory cytokine TNF-α content measured with enzyme-linked immunoso2022-01-01T00:00:00Z2022 May2025-04-26T07:31:47.203Z2024-11-09T08:42:40.869ZS-EPMC91447633562840010.3390/ijms23105586