John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation Volume 17, numéro 4, December 2015

Illustrations

  • Figure 1
  • Figure 2

Tableaux

Auteurs
1 Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina
2 Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
* Correspondence: Mohamad A Mikati Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, DUMC 3936, Durham, North Carolina 27710, USA
  • Mots-clés : WDR45, neurodegeneration with brain iron accumulation (NBIA), epileptic spasms, beta-propeller protein-associated neurodegeneration (BPAN)
  • DOI : 10.1684/epd.2015.0784
  • Page(s) : 467-72
  • Année de parution : 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.R134X) 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.