Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy

Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly in language development, behavioral abnormalities,...

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Detalles Bibliográficos
Autores principales: Horn, Svea, Danyel, Magdalena, Erdmann, Nina, Boschann, Felix, Gunnarsson, Cecilia, Biskup, Saskia, Juengling, Jerome, Potratz, Cornelia, Prager, Christine, Kaindl, Angela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871926/
https://www.ncbi.nlm.nih.gov/pubmed/36703628
http://dx.doi.org/10.3389/fneur.2022.1113811

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