Skip to main content
Journal cover image

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

Publication ,  Journal Article
Xixis, KI; Mikati, MA
Published in: Epileptic Disord
December 2015

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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

December 2015

Volume

17

Issue

4

Start / End Page

467 / 472

Location

United States

Related Subject Headings

  • Spasms, Infantile
  • Neurology & Neurosurgery
  • Mutation
  • Magnetic Resonance Imaging
  • Infant
  • Humans
  • Female
  • Electroencephalography
  • Child, Preschool
  • Child
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Xixis, K. I., & Mikati, M. A. (2015). Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation. Epileptic Disord, 17(4), 467–472. https://doi.org/10.1684/epd.2015.0784
Xixis, Kathryn I., and Mohamad A. Mikati. “Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.Epileptic Disord 17, no. 4 (December 2015): 467–72. https://doi.org/10.1684/epd.2015.0784.
Xixis KI, Mikati MA. Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation. Epileptic Disord. 2015 Dec;17(4):467–72.
Xixis, Kathryn I., and Mohamad A. Mikati. “Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.Epileptic Disord, vol. 17, no. 4, Dec. 2015, pp. 467–72. Pubmed, doi:10.1684/epd.2015.0784.
Xixis KI, Mikati MA. Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation. Epileptic Disord. 2015 Dec;17(4):467–472.
Journal cover image

Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

December 2015

Volume

17

Issue

4

Start / End Page

467 / 472

Location

United States

Related Subject Headings

  • Spasms, Infantile
  • Neurology & Neurosurgery
  • Mutation
  • Magnetic Resonance Imaging
  • Infant
  • Humans
  • Female
  • Electroencephalography
  • Child, Preschool
  • Child