Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene

Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment/intellectual disability, dysmorphic facial features and early onset of refractory seizures. Here we repor...

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Detalles Bibliográficos
Autores principales: Cattelani, Cecilia, Battistella, Ingrid, Di Leva, Francesca, Fioravanti, Giulia, Benedicenti, Francesco, Stanzial, Franco, Schwienbacher, Christine, Fanelli, Francesca, Pramstaller, Peter P., Hicks, Andrew A., Conti, Luciano, Corti, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654488/
https://www.ncbi.nlm.nih.gov/pubmed/36361881
http://dx.doi.org/10.3390/ijms232113095

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654488/
https://www.ncbi.nlm.nih.gov/pubmed/36361881
http://dx.doi.org/10.3390/ijms232113095

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