Article

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants

2025-08-18

Abstract excerpt

The CDKL5 deficiency disorder, which is a developmental and epileptic encephalopathy occurring in 1 in every 40,000 to 60,000 live births was subject of this computational investigation. The study provided a comprehensive list of missense variants (156) seen in the human population within the CDKL5 protein. Furthermore, the list of CDKL5 binding partners was updated to include four new entries. Computational model...

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Literature Corpus work: 9affee92-8793-58bb-8068-e6d77a29cb82
DOI: 10.20944/preprints202508.1241.v1

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