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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Dades bibliogràfiques
Publicat a:Brain Sci
Autors principals: Pepi, Chiara, de Palma, Luca, Trivisano, Marina, Pietrafusa, Nicola, Lepri, Francesca Romana, Diociaiuti, Andrea, Camassei, Francesca Diomedi, Carfi-Pavia, Giusy, De Benedictis, Alessandro, Rossi-Espagnet, Camilla, Vigevano, Federico, Marras, Carlo Efisio, Novelli, Antonio, Bluemcke, Ingmar, Specchio, Nicola
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8234150/
https://ncbi.nlm.nih.gov/pubmed/34208656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci11060793
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