title: Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.
abstract: 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.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Kathryn I
authors.initials: KI
authors.lastname: Xixis
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
authors.forename: Mohamad A
authors.initials: MA
authors.lastname: Mikati
mesh_terms: D001921:Brain / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009154:Mutation; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human
keywords: WDR45; beta-propeller protein-associated neurodegeneration (BPAN); epileptic spasms; neurodegeneration with brain iron accumulation (NBIA)