Polyalanine (poly-A) tracts exist in 494 annotated proteins; to date, expansions in these
tracts have been associated with nine human diseases. The pathogenetic mechanism by …

A growing number of human disorders have been associated with expansions of a tract of a
single amino acid. Recently, polyalanine (polyA) tract expansions in the Aristaless-related …

Infantile spasms syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms,
persistent seizures, mental retardation, and in some cases, autism. One of its monogenic …

Background X-linked mental retardation (XLMR) is the leading cause of mental retardation
in males. Mutations in the ARX gene in Xp22. 1 have been found in numerous families with …

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved
Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and …

Background Cognitive impairments are heterogeneous conditions, and it is estimated that
10% may be caused by a defect of mental function genes on the X chromosome. One of …

Methods. We suspected that mutations of ARX also cause sporadic cryptogenic West
syndrome, and we detected a mutation in the coding region of ARX in one of eight patients …

The Aristaless‐related homeobox (ARX) gene is implicated in intellectual disability with the
most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts …

Neuronal migration disorders are human (or animal) diseases that result from a disruption in
the normal movement of neurons from their original birth site to their final destination during …

GABA ergic interneurons control the neural circuitry and network activity in the brain. The
advances in genetics have identified genes that control the development, maturation, and …