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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

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....

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Sábháilte in:
Príomhchruthaitheoirí: Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes, Pasquale Striano
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: BMC 2021-10-01
Sraith:Italian Journal of Pediatrics
Ábhair:
CASPR2
Intragenic duplication
Hyperkinetic movement disorder
Hyperkinesia
Speech impairment
Intellectual disability
Rochtain ar líne:https://doi.org/10.1186/s13052-021-01162-w
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