A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Since its first clinical description (on his son) by William James West (1793–1848) in 1841,
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …

Williams–Beuren syndrome, a multisystem disorder caused by the deletion of a
chromosome region of 1.5 million to 1.8 million base pairs containing 26 to 28 genes, is a …

Repair of DNA double-strand breaks (DSBs) by non-homologous end joining is critical for
neural development, and brain cells frequently contain somatic genomic variations that …

Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …

Copy number variation (CNV) has recently gained considerable interest as a source of
genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has …

The current spectrum of disorders associated to clinical spasms with onset in infancy is
wider than previously thought; accordingly, its terminology has changed. Nowadays, the …

Objective: Rare copy number variants (CNVs)—deletions and duplications—have recently
been established as important risk factors for both generalized and focal epilepsies. A …

Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in∼
40% of patients. We hypothesized that unexplained IS cases represent a large collection of …

Williams syndrome has been variably termed Williams–Beuren syndrome, idiopathic
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …