Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

ConclusionThis case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication inCNTNAP2 points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding.

http://link.springer.com/10.1186/s13052-021-01162-w

Source: Italian Journal of Pediatrics - October 12, 2021 Category: Pediatrics Source Type: research