Craniosynostosis is encountered in the pediatric population in isolated or syndromic forms.
The resulting deformity depends on the number and type of sutures involved and, in multi-…

Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable …

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised
by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control …

Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly
constitute a spectrum of malformations of cortical development with shared neuropathologic …

Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease
manifestations ranging from early death to abnormalities in all major organ systems and …

Causes of autosomal-recessive intellectual disability (ID) have, until very recently, been
under researched because of the high degree of genetic heterogeneity. However, now that …

This second portion of a two-part review illustrates examples of posterior fossa disorders
detectable on prenatal ultrasound and MRI, with postnatal or pathology correlation where …

Mental retardation/intellectual disability is a devastating neurodevelopmental disorder with
serious impact on affected individuals and their families, as well as on health and social …

Objective To test whether systemic cytokine release is associated with central nervous system
inflammatory responses and glial injury in immune effector cell‐associated neurotoxicity …

Cytomegalovirus (CMV) is a ubiquitous virus that usually results in asymptomatic or clinically
benign infection. However, there are two groups of patients whose response to CMV …