Article

Novel missense variants of TAF1 are associated with infantile epileptic spasms and impaired neuronal excitability and development

2025-07-29

Abstract excerpt

<title>Abstract</title> Infantile epileptic spasm syndrome (IESS) is a severe type of epileptic encephalopathy with strong genetic associations. The <italic>TAF1</italic> gene encodes the TATA-box-binding protein factor 1 protein, a critical component of transcription factor II D complex essential for initiating transcription. Missense variants of TAF1 have previously been implicated in X-linked intellectual d...

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Literature Corpus work: b00c24fd-e26e-52f4-83d7-827cc1bebe71
DOI: 10.21203/rs.3.rs-7222390/v1

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