The development of next generation sequencing (NGS) has radically transformed the
scientific landscape, making it possible to sequence the exome of any given individual in a …

High resolution chromosomal microarray analysis (CMA) has facilitated the identification of
small chromosomal rearrangements throughout the genome, associated with various …

Somatic mosaicism in focal epilepsies : Current Opinion in Neurology Somatic mosaicism in
focal epilepsies : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …

The underlying causes of learning disability and dysmorphic features in many patients
remain unidentified despite extensive investigation. Routine karyotype analysis is not …

Background Several recent studies have demonstrated the use of single nucleotide
polymorphism (SNP) arrays for the investigation of intellectual disability, developmental …

Malformations of cortical development (MCDs) manifest with structural brain anomalies that
lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and …

Microarray analysis has provided significant advances in the diagnosis of conditions
resulting from submicroscopic chromosome abnormalities. It has been recommended that …

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …

Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading
to progressive degeneration of cerebral white matter. They are associated with a spectrum of …

Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies
have reported the frequency of somatic mosaicism in parents of children with severe …