De Novo GLUL Start‑Loss Variant

This webinar will present and discuss a complex clinical case highlighting the role of advanced genomic testing and variant interpretation in severe epileptic encephalopathy. The session will review a patient with early-onset global developmental delay, profound hypotonia, neurodevelopmental regression, and multiple seizure types, including absence, myoclonic, and focal seizures with apneic episodes. Genetic findings, including a recently described de novo start-loss variant in GLUL associated with an emerging autosomal dominant neurodevelopmental phenotype, will be discussed in the context of diagnostic challenges, variant interpretation, and clinical implications, emphasizing the value of comprehensive genomic approaches in complex and unresolved neurodevelopmental disorders.

Speaker

Livia Loureiro, PhD
Senior Staff, Medical Science Liaison
Illumina