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Browsing Journal Articles by Author "Zackai, Elaine H."

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

Author: Royer-Bertrand, Beryl ; Jequier Gygax, Marine ; Cisarova, Katarina ; Rosenfeld, Jill A. ; Bassetti, Jennifer A. ; Moldovan, Oana ; O’Heir, Emily ; Burrage, Lindsay C. ; Allen, Jake ; Emrick, Lisa T. ; Eastman, Emma ; Kumps, Camille ; Abbas, Safdar ; Van Winckel, Geraldine ; Chabane, Nadia ; Zackai, Elaine H. ; Lebon, Sebastien ; Keena, Beth ; Bhoj, Elizabeth J. ; Umair, Muhammad ; Li, Dong ; Donald, Kirsten A. ; Superti-Furga, Andrea Date: 26 Oct 2021 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. ... Read more c b

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