The Sotos syndrome is an autosomal dominant disorder characterized by haploinsufficiency of gene, with some individuals affected by epilepsy and, rarely, drug-resistant seizures. A 47-years-old female patient with Sotos syndrome was diagnosed with focal-onset seizures in left temporal lobe, left-side hippocampal atrophy, and neuropsychological testing with decreased performance in several cognitive domains. Patient was treated with left-side temporal lobe resection and developed complete awake seizure control in 3-years of follow-up, with marked improvement in quality-of-life. In selected, clinically concordant patients, resective surgeries may play a significant role in improving patient's quality of life and seizure control.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10033939PMC
http://dx.doi.org/10.3389/fneur.2023.1126327DOI Listing

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