Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report

Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report

Abstract Background The pathogenesis of autism spectrum disorder (ASD) is not fully clarified. Next-generation sequencing technologies have greatly enhanced the identification of new genes associated with ASD. Variants in ANK2 gene are known to correlate with a broad spectrum of clinical cardiac phe...

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Bibliographic Details
Main Authors: Catarina Granjo Morais, Rita Quental, Lara Lourenço, Micaela Guardiano, Cármen Silva, Miguel Leão
Format: Article
Language:English
Published: SpringerOpen 2023-01-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Autism spectrum disorder
Autistic disorder
Epilepsy
Genetic testing
Online Access:https://doi.org/10.1186/s43042-023-00389-y

Internet

https://doi.org/10.1186/s43042-023-00389-y

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