Beyond the seizure: the overlooked sensory phenotypes of Munc18-1 dysfunction

The identification of STXBP1 (encoding Munc18-1) as a causative gene for Ohtahara syndrome revolutionized our understanding of early infantile epileptic encephalopathies (EIEE).
Go to the profile of AAYUSHI GUPTA
AAYUSHI GUPTA
Senior Genetic counsellor and Associate manager medical scientific affairs, Redcliffe Labs
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We recognize that routine implementation of these biomarkers may be challenging in individuals with severe developmental delay, communication impairment, or movement disorders. Standard psychophysical olfactory tests may not be feasible in many patients, highlighting the need for caregiver-assisted behavioral paradigms or objective electrophysiological and imaging-based olfactory assessments. Similarly, advances in handheld or portable ERG systems and child-adapted acquisition protocols may facilitate retinal evaluation despite motor instability. Validating these region-specific effects could establish non-invasive sensory testing (ERG, olfactory screening) as standard care for prognostication and offer accessible tissues for monitoring the efficacy of emerging disease-modifying therapies.

Can checkout for full information: https://link.springer.com/article/10.1186/s43042-026-00900-1

Go to the profile of AAYUSHI GUPTA
AAYUSHI GUPTA
Senior Genetic counsellor and Associate manager medical scientific affairs, Redcliffe Labs

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