Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown.

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This study found that a gene called PPP2R5D, when mutated, causes brain cells to grow abnormally, and researchers were able to reverse these problems using a targeted genetic tool called an antisense oligonucleotide (ASO), which may offer hope for families dealing with similar neurodevelopmental conditions involving intellectual disability, autism, and seizures.