ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development ...

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

Objective α (CAMK2A) and β (CAMK2B) isoforms of Calcium/calmodulin-dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α- and β-CaMKII variants in neurodevelopmental disorders. Methods Whole-exome sequencing was performed for 976 individuals with intellectual disability,...

post-operative neurodevelopmental findings in syndromic and non-syndromic craniosynostosis

objective to evaluate the developmental situation of children that undergo operation because of syndromic and non-syndromic craniosynostosis. materials & methods in this prospective study, 24 children (4 to 16 months of age) who underwent neurosurgeryical intervention because of non-syndromic (79%) and syndromic (21%) craniosynostosis were recruited. for psychological evaluation, the bayley sca...

Epilepsy as a Neurodevelopmental Disorder

Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group of syndromes with different etiologies. Epileptogenesis refers to the process whereby the brain becomes epileptic and can be related to several factors, such as acquired structural brain lesions, inborn brain malformations, alterations in neuronal signaling, and defects in maturation and plasticity of neur...

Is schizophrenia a neurodevelopmental disorder?