{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:08Z","timestamp":1792084028637,"version":"4.4.0"},"reference-count":80,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T00:00:00Z","timestamp":1623801600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>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-yellow linear skin lesion suggestive of NS in the left temporo-occipital area was evident at birth. Epileptic spasms presented at aged six months. EEG showed continuous left temporo-occipital epileptiform abnormalities. Brain MRI revealed a similarly located diffuse cortical malformation with temporal pole volume reduction and a small hippocampus. We performed a left temporo-occipital resection with histopathological diagnosis of focal cortical dysplasia type Ia in the occipital region and hippocampal sclerosis type 1. Three years after surgery, he is seizure-and drug-free (Engel class Ia) and showed cognitive improvement. Genetic examination of brain and skin specimens revealed the c.35G &gt; T (p.Gly12Val) KRAS somatic missense mutation. Literature review suggests epilepsy surgery in patients with NSS is highly efficacious, with 73% probability of seizure freedom. The few histological analyses reported evidenced disorganized cortex, occasionally with cytomegalic neurons. This is the first reported association of a KRAS genetic variant with cortical malformations associated with epilepsy, and suggests a possible genetic substrate for hippocampal sclerosis.<\/jats:p>","DOI":"10.3390\/brainsci11060793","type":"journal-article","created":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T10:27:07Z","timestamp":1623839227000},"page":"793","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0880-6140","authenticated-orcid":false,"given":"Chiara","family":"Pepi","sequence":"first","affiliation":[{"name":"Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"de Palma","sequence":"additional","affiliation":[{"name":"Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-8581","authenticated-orcid":false,"given":"Marina","family":"Trivisano","sequence":"additional","affiliation":[{"name":"Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2446-796X","authenticated-orcid":false,"given":"Nicola","family":"Pietrafusa","sequence":"additional","affiliation":[{"name":"Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Romana","family":"Lepri","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Ges\u00f9 Children Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0879-9825","authenticated-orcid":false,"given":"Andrea","family":"Diociaiuti","sequence":"additional","affiliation":[{"name":"Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Member of European Reference Network SKIN, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Diomedi","family":"Camassei","sequence":"additional","affiliation":[{"name":"Department of Laboratories\u2014Pathology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giusy","family":"Carfi-Pavia","sequence":"additional","affiliation":[{"name":"Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"De Benedictis","sequence":"additional","affiliation":[{"name":"Neurosurgery Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Rossi-Espagnet","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Imaging Department, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"},{"name":"Neuroradiology Unit, NESMOS Department, Sapienza University, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Vigevano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo Efisio","family":"Marras","sequence":"additional","affiliation":[{"name":"Neurosurgery Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-4297","authenticated-orcid":false,"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Ges\u00f9 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1212\/WNL.41.2_Part_1.266","article-title":"Epidermal nevus syndrome: A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy","volume":"41","author":"Pavone","year":"1991","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1038\/ng.2316","article-title":"Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome","volume":"44","author":"Groesser","year":"2012","journal-title":"Nat. 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