Identification of a recurrent mosaic
focal seizures with impairment of consciousness or awareness
generalized tonic seizures
intellectual disability
linear nevus sebaceous
mild
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
received:
25
07
2021
accepted:
29
09
2021
pubmed:
16
10
2021
medline:
13
1
2022
entrez:
15
10
2021
Statut:
epublish
Résumé
Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. It has been associated with several eponyms including Schimmelpenning and Jadassohn. The isolated skin lesion, nevus sebaceous, is associated with postzygotic variants in
Identifiants
pubmed: 34649968
pii: mcs.a006133
doi: 10.1101/mcs.a006133
pmc: PMC8751419
pii:
doi:
Substances chimiques
KRAS protein, human
0
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
ras Proteins
EC 3.6.5.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2021 Green et al.; Published by Cold Spring Harbor Laboratory Press.
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