De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Beryl Royer-BertrandMarine Jequier GygaxKatarina CisarovaJill Anne RosenfeldJennifer A BassettiOana MoldovanEmily O'HeirLindsay C BurrageJake AllenLisa T EmrickEmma EastmanCamille KumpsSafdar AbbasGeraldine Van Winckelnull nullNadia ChabaneElaine H ZackaiSebastien LebonBeth KeenaElizabeth Joyce BhojMuhammad UmairDong LiKirsten Ann DonaldAndrea Superti-FurgaPublished in: Molecular autism (2021)
Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate.