Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Journal Article (Journal Article)

WDR45 mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms. Although various seizure types may occur, epileptic spasms have not been reported for this disease. Our patient initially developed a prolonged, focal-onset seizure at three months of age and was subsequently noted to have psychomotor delay. At 11 months of age, she developed epileptic spasms. Her EEG showed hypsarrhythmia. An extensive neurogenetic workup and brain MRI, revealing normal data, ruled out other detectable causes of epileptic spasms. Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. We conclude that WDR45 mutations should be considered as a possible aetiology in infants with early-onset focal seizures and/or in otherwise undiagnosed cases of epileptic spasms.

Full Text

Duke Authors

Cited Authors

  • Xixis, KI; Mikati, MA

Published Date

  • December 2015

Published In

Volume / Issue

  • 17 / 4

Start / End Page

  • 467 - 472

PubMed ID

  • 26609730

Electronic International Standard Serial Number (EISSN)

  • 1950-6945

Digital Object Identifier (DOI)

  • 10.1684/epd.2015.0784


  • eng

Conference Location

  • United States