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Berardinelli-Seip syndrome (CGL2) is associated with a lack of subcutaneous adipose tissue and metabolic syndrome, but certain BSCL2 mutations can lead to progressive myoclonus epilepsy (PME) and neurological decline. A case study describes a patient with PME and a homozygous BSCL2 mutation who experienced severe seizures and cognitive delays, with temporary seizure control achieved through vagus nerve stimulation. This report highlights the potential for specific mutations to influence the clinical present

Author

TANI

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EN