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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Brain Sci
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
Soggetti:
Review
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi