Tcf4 Deficiency causes recurrent seizures in mice.

ABSTRACT: Transcription factor 4 (TCF4) is essential for the normal development and function of the central nervous system. Haploinsufficiency of TCF4 due to deletions or mutations causes Pitt-Hopkins Syndrome (PTHS), a lifelong neurodevelopmental disorder characterized by seizures, autism, and intellectual disability. Previous studies have shown that various mutations, including deletion of exon 4 in the mouse Tcf4 gene in neural progenitors, neurons, or oligodendrocytes, did not reproduce the seizure phenotype. Here, we report that mice with a heterozygous deletion of Tcf4 in Aldehyde Dehydrogenase 1 Family Member L1 (Aldh1l1)-expressing cells-which resulted in approximately 60 % reduced Tcf4 expression in astrocytes and a 35 % reduction in other cell types, including neurons and oligodendrocytes-

SUBMITTER: Craciun L 

PROVIDER: S-EPMC12439128 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature