Protocadherin 19 mutations in girls with infantile-onset epilepsy.

Objective: To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy.

Methods: We studied a cohort of 117 female patients with febrile seizures (FS) and a wide spectrum of epilepsy phenotypes including focal and generalized forms with either sporadic or familial distribution.

Results: PCDH19 screening showed point mutations in 13 probands (11%).

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

Background: ARX is a paired-type homeobox gene located on the X chromosome that contains five exons with four polyalanine (PolyA) tracts, a homeodomain, and a conserved C-terminal aristaless domain. Studies in humans have demonstrated remarkable pleiotropy: malformation phenotypes are associated with protein truncation mutations and missense mutations in the homeobox; nonmalformation phenotypes, including X-linked infantile spasms (ISS), are associated with missense mutations outside of the homeobox and expansion of the PolyA tracts.

Objective: To investigate the role of ARX, we performed mutation analysis in 115 boys with cryptogenic ISS.