What are the genetic causes of infantile spasm (West syndrome)?

Updated: Jan 11, 2019
  • Author: Tracy A Glauser, MD; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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Answer

There has been an increased understanding of the role of genetic defects in the etiology of infantile spasms, such that there are panels of genetic mutations tha are commercially available for testing. In addition to the genetic mutations in TSC1 and TSC2, which cause tuberous sclerosis, specific genetic defects have been identified in many patients with early onset of infantile spasms, including mutations in the gene ARX on the short arm of chromosome X, which is associated with a wide variety of structural brain abnormalities, and a mutation in the cyclin-dependent kinase-like protein 5 (CDKL5).


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