Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

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. Biallel...

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Detalles Bibliográficos
Autores principales: Scala, Marcello, Anijs, Midas, Battini, Roberta, Madia, Francesca, Capra, Valeria, Scudieri, Paolo, Verrotti, Alberto, Zara, Federico, Minetti, Carlo, Vernes, Sonja C., Striano, Pasquale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507175/
https://www.ncbi.nlm.nih.gov/pubmed/34641913
http://dx.doi.org/10.1186/s13052-021-01162-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507175/
https://www.ncbi.nlm.nih.gov/pubmed/34641913
http://dx.doi.org/10.1186/s13052-021-01162-w

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