De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Abstract Background De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. Methods Following the observation of an index patient with developmental delay and autis...

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Bibliographic Details
Main Authors: Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Molecular Autism
Subjects:
Autism spectrum disorder
CACNA1E
Developmental regression
Epilepsy
Exome sequencing
Global developmental delay
Online Access:https://doi.org/10.1186/s13229-021-00473-3

Internet

https://doi.org/10.1186/s13229-021-00473-3

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