Global developmental delay and intellectual disabilities are common reasons for diagnostic
assessment by paediatricians. There are a multiplicity of possible causes many of which …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

Genetics is believed to have an important role in intellectual disability (ID). Recent studies
have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which …

Little is known about the genetics of nonsyndromic intellectual disability (NSID). We
hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction …

OBJECTIVES. Our goal for this study was to prospectively test whether parent-completed
questionnaires can be effectively used in the setting of a busy ambulatory pediatric clinic to …

The regulated proliferation and differentiation of neural stem cells before the generation and
migration of neurons in the cerebral cortex are central aspects of mammalian development …

Mirror movements are involuntary contralateral movements that mirror voluntary ones and
are often associated with defects in midline crossing of the developing central nervous …

Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-
recessive disorder characterized by peripheral nerve degeneration resulting in a severe …

We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with
septo-optic dysplasia (SOD) and attempted to identify correlations between imaging …

ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …