Two new familial severe infantile spasm syndromes in males.

Published

Journal Article

We describe two new familial severe infantile spasm syndromes (ISSs) unrelated to Aristaless-related homeobox (ARX) gene mutation. Family A contains two male siblings each with dysmorphism, profound psychomotor delay, gastroesophageal reflux, infantile spasms, hypsarrhythmia, prominent independent central apneas, and early death. Family B contains two male siblings with dysmorphism, profound psychomotor delay, ambiguous genitalia, macular hypoplasia, neurosensory hearing deficit, gastroesophageal reflux, infantile spasms, no hypsarrhythmia, apneas, and early death in one sibling. Etiologic workup and ARX gene sequencing were negative. This indicates that several familial ISSs exist but are not genetically characterized.

Full Text

Duke Authors

Cited Authors

  • Karam, PE; Farra, C; Shamseddine, A; Mikati, MA

Published Date

  • April 2009

Published In

Volume / Issue

  • 14 / 4

Start / End Page

  • 696 - 700

PubMed ID

  • 19232548

Pubmed Central ID

  • 19232548

Electronic International Standard Serial Number (EISSN)

  • 1525-5069

Digital Object Identifier (DOI)

  • 10.1016/j.yebeh.2009.02.011

Language

  • eng

Conference Location

  • United States