Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

OBJECTIVE: NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype–phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent liter...

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Detalles Bibliográficos
Autores principales: Dainelli, Alice, Iacomino, Michele, Rossato, Sara, Bugin, Samuela, Traverso, Monica, Severino, Mariasavina, Gustincich, Stefano, Capra, Valeria, Di Duca, Marco, Zara, Federico, Scala, Marcello, Striano, Pasquale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690669/
https://www.ncbi.nlm.nih.gov/pubmed/37491868
http://dx.doi.org/10.1002/epi4.12798

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