Article

Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathy

2026-03-03

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) are a group of severe childhood-onset neurological disorders, often caused by rare genetic variants affecting brain development and excitability. Despite advances in genomic sequencing, a substantial proportion of DEE cases remain unsolved. Here, we identify THAP12 as a novel disease-causing gene associated with autosomal recessive DEE. Whole-genome sequencing i...

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Literature Corpus work: 15cef479-7175-5598-9368-a86378db3b64
DOI: 10.64898/2026.02.27.26347078

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Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathyDOI 10.64898/2026.02.27.26347078Read

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