There is a consensus in the field that microglia play a prominent role in neurodevelopmental
processes like synaptic pruning and neuronal network maturation. Thus, a current …

Whole-exome sequencing (WES) is useful for molecular diagnosis, family genetic
counseling, and prognosis of intellectual disability (ID). However, ID molecular diagnosis …

KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic
phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to …

Purpose: Advancements in genetic testing and analysis have allowed improved
identification of the genetic basis of childhood apraxia of speech, a rare speech …

Clinical studies have demonstrated an association between high myopia (HM) and
neuropsychiatric disorders; however, the underlying mechanism of the association is not …

Autism spectrum disorder (ASD) is a heterogeneous condition, characterized by complex
genetic architectures and intertwined genetic/environmental interactions. Novel analysis …

Whole exome sequencing is recommended as the first tier test for neurodevelopmental
disorders (NDDs) with trio being an ideal option for the detection of de novo variants. Cost …

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor
neurons. Several bi-allelic truncating and missense variants in this gene are reported to …

Alterations in the brain's oxytocinergic system have been suggested to play an important
role in the pathophysiology of autism spectrum disorder (ASD), but insights from pediatric …

Abstract Background White-Sutton syndrome is an autosomal dominant
neurodevelopmental disorder caused by heterozygous mutation in POGZ (Pogo …