BRAF alterations, namely BRAF fusion and BRAF V600E mutation, have been recently reported in low-grade epilepsy-associated tumors. Twenty low-grade epilepsy-associated tumors were retrieved to evaluate the BRAF mutational status. BRAF mutations were present in 10 tumors and concomitantly in associated dysplastic tissue of three patients. We here show for the first time that BRAF mutations are present not only in low-grade epilepsy-associated tumors but, in some cases, also in the associated focal cortical dysplasia.
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http://dx.doi.org/10.1002/acn3.31 | DOI Listing |
J Neurol
January 2025
Epilepsy Unit - Sleep Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Background: Temporal lobe epilepsy with isolated amygdala enlargement (TLE-AE) still lacks a definite characterization and controversies exist.
Methods: We conducted a retrospective study identifying brain MRI scans with isolated AE between 2015 and 2021. We collected clinical and paraclinical data of patients with TLE-AE and evaluated the outcome.
Front Neurol
November 2024
Department of Neurosurgery, Guangdong Sanjiu Brain Hospital, Guangzhou, China.
Background: The Polymorphic Low-Grade Neuroepithelial Tumor of the Young (PLNTY) is a rare, epilepsy-associated brain tumor that has been increasingly recognized but is not well understood due to the scarcity of clinical reports. Our study reviews the clinical characteristics and treatment outcomes of 14 patients with PLNTY to enhance the understanding of this condition from an epilepsy surgery perspective.
Methods: We performed a retrospective analysis of 14 PLNTY cases at our hospital.
Nat Commun
November 2024
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by epileptogenic lesions, including malformations of cortical development (MCD) and low-grade epilepsy-associated tumors (LEAT). Understanding the genetic etiology of these lesions can inform medical and surgical treatment. We conducted a somatic variant enrichment mega-analysis in brain tissue from 1386 individuals who underwent epilepsy surgery, including 599 previously unpublished individuals with ultra-deep ( > 1600x) targeted panel sequencing.
View Article and Find Full Text PDFRadiol Med
November 2024
Department of Neuropediatrics, University Children's Hospital Zurich, Lenggstrasse 30, 8008, Zurich, Switzerland.
Purpose: Arterial spin labeling (ASL), a noninvasive magnetic resonance (MRI) perfusion sequence, holds promise in the presurgical evaluation of pediatric lesional epilepsy patients, including those with low-grade epilepsy-associated tumors (LEATs). The interpretation of ASL-derived perfusion patterns, however, presents challenges. Our study aims to elucidate these perfusion changes in children with LEATs, exploring their correlations with clinical, electroencephalography (EEG), and anatomical MRI findings.
View Article and Find Full Text PDFEpilepsy Behav
November 2024
Goethe University Frankfurt, Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, University Hospital Frankfurt (Main), Germany; Goethe University Frankfurt, Neurological Institute (Edinger Institute), University Hospital Frankfurt (Main), Germany.
Of all patients with brain tumors, about 30-50% suffer from epileptic seizures. The probability of developing epilepsy is particularly high in low-grade, epilepsy-associated brain tumors (LEAT). LEATs often show a pronounced network dysfunction with extensive EEG pathologies and cognitive deficits, and the epilepsies are often difficult to treat.
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