Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Malformations of cortical development (MCDs) are macroscopic or microscopic
abnormalities of the cerebral cortex that arise as a consequence of an interruption to the …

Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in
white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) …

Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …

Background Although there is increasing recognition of the role of somatic mutations in
genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and …

Background: Recognizing the cause of optic neuritis (ON) affects treatment decisions and
visual outcomes. Objective: We aimed to define radiological features of first-episode …

Localization and fractionation 24 Early frontal lobe development: First steps toward the
executive summit 27 Preschool development: The ''why''years 30 Preadolescence period 33 …

Deletions of 17p13. 3, including the LIS1 gene, result in the brain malformation
lissencephaly, which is characterized by reduced gyration and cortical thickening; however …

Polymicrogyria is one of the most common malformations of cortical development and is
associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor …

Advances in understanding the etiology of Parkinson disease have been driven by the
identification of causative mutations in families. Genetic analysis of an Australian family with …