Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CN...

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Bibliographic Details
Main Authors: Raffaele Falsaperla, Xena Giada Pappalardo, Catia Romano, Simona Domenica Marino, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Piero Pavone
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Pediatrics
Subjects:
CNTNAP2 gene
intronic copy number variant
conduct disorder (CD)
epilepsy
intellectual disability (ID)
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00550/full

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https://www.frontiersin.org/article/10.3389/fped.2020.00550/full

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