Article

A complex duplication overlapping <i>FBRSL1</i> implicated in a developmental and epileptic encephalopathy

2026-04-04

Abstract excerpt

To date, FBRSL1 -related disorder has been reported in five individuals with congenital abnormalities and severe postnatal impairment with or without epilepsy; however, the full extent of the phenotypic and genotypic spectrum remains unclear. Previously reported cases involved small truncating variants apparently escaping nonsense-mediated decay, suggesting either a haploinsufficiency or a dominant-negative mecha...

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Literature Corpus work: 5b9f7dbf-b9b3-51b2-9107-4486a863b6dc
DOI: 10.64898/2026.03.30.26349353

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