Case report: Successful anterior temporal lobectomy in drug-resistant temporal lobe epilepsy associated with Sotos syndrome.

Autor:	Favi Bocca L; Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Pereira Rodrigues T; Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Bortholin T; Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Targas Yacubian EM; Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Carrete Júnior H; Department of Diagnostic Imaging, Federal University of São Paulo, São Paulo, Brazil., Guaranha M; Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil., Silva Centeno R; Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.
Jazyk:	angličtina
Zdroj:	Frontiers in neurology [Front Neurol] 2023 Mar 09; Vol. 14, pp. 1126327. Date of Electronic Publication: 2023 Mar 09 (Print Publication: 2023).
DOI:	10.3389/fneur.2023.1126327
Abstrakt:	The Sotos syndrome is an autosomal dominant disorder characterized by haploinsufficiency of NSD1 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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Favi Bocca, Pereira Rodrigues, Bortholin, Targas Yacubian, Carrete Júnior, Guaranha and Silva Centeno.)
Databáze:	MEDLINE
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