The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

The rare nevus sebaceous (NS) syndrome (NSS) includes cortical malformations and drug-resistant epilepsy. Somatic RAS-pathway genetic variants are pathogenetic in NS, but not yet described within the brain of patients with NSS. We report on a 5-year-old boy with mild psychomotor delay. A brown-yello...

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Bibliographic Details
Main Authors: Chiara Pepi, Luca de Palma, Marina Trivisano, Nicola Pietrafusa, Francesca Romana Lepri, Andrea Diociaiuti, Francesca Diomedi Camassei, Giusy Carfi-Pavia, Alessandro De Benedictis, Camilla Rossi-Espagnet, Federico Vigevano, Carlo Efisio Marras, Antonio Novelli, Ingmar Bluemcke, Nicola Specchio
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Brain Sciences
Subjects:
KRAS genetic variants
nevus sebaceous syndrome
pediatric epilepsy surgery
hippocampal sclerosis
focal cortical dysplasia
RAS pathway
Online Access:https://www.mdpi.com/2076-3425/11/6/793

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https://www.mdpi.com/2076-3425/11/6/793

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