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

Abstract 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 pertine...

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Bibliographic Details

Published in:	Epilepsia Open
Main Authors:	Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano
Format:	Article
Language:	English
Published:	Wiley 2023-12-01
Subjects:	epilepsy FCD focal cortical dysplasia focal seizures frontal lobe NPRL3
Online Access:	https://doi.org/10.1002/epi4.12798