Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

• Main Authors: Marcello Scala (Author), Midas Anijs (Author), Roberta Battini (Author), Francesca Madia (Author), Valeria Capra (Author), Paolo Scudieri (Author), Alberto Verrotti (Author), Federico Zara (Author), Carlo Minetti (Author), Sonja C. Vernes (Author), Pasquale Striano (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals....