A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling

A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling

CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. Hundreds of pathogenic variants have been described, associated with a significant phenotypic heterogeneity observed among patients. To date, different knockout mouse models have bee...

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Bibliographic Details
Main Authors: C. Quadalti, M. Sannia, N.E. Humphreys, V.A. Baldassarro, A. Gurgone, M. Ascolani, L. Zanella, L. Giardino, C.T. Gross, S. Croci, I. Meloni, M. Giustetto, A. Renieri, L. Lorenzini, L. Calzà
Format: Article
Language:English
Published: Elsevier 2024-11-01
Series:Heliyon
Subjects:
CDKL5
CDD
CRISPR/Cas9 knockin
GABA
Gabra1
Gabra5
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024161968
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