Article

Evaluation of Na <sub>v</sub> 1.8 as a therapeutic target for Pitt Hopkins Syndrome

2022-04-16

Abstract excerpt

Pitt Hopkins Syndrome (PTHS) is a rare syndromic form of autism spectrum disorder (ASD) caused by autosomal dominant mutations in the Transcription Factor 4 ( TCF4 ) gene. TCF4 is a basic helix-loop-helix transcription factor that is critical for neurodevelopment and brain function through its binding to cis-regulatory elements of target genes. One potential therapeutic strategy for PTHS is to identify dysregula...

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Literature Corpus work: e6f4d874-90cd-52a9-8c93-b1bec5a91310
DOI: 10.1101/2022.04.15.488505

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