title: Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome.
abstract: Patients with 22q13.3 deletion syndrome present with diverse neurological problems such as global developmental delays, hypotonia, delayed or absent speech, autistic behavior, and epilepsy. Seizures occur in up to one-third of patients with 22q13.3 deletion syndrome; however, only a few reports have provided details regarding the seizure manifestations. The present report describes a patient with 22q13.3 deletion syndrome who presented with late-onset epileptic spasms (ES) and electroencephalography features like Lennox-Gastaut syndrome. An array comparative genomic hybridization analysis revealed that a chromosomal deletion of this patient included SHANK3. To the best of our knowledge, this is the first confirmed case of late-onset ES occur in patients with 22q13.3 deletion syndrome with a SHANK3 deletion.
authors.affiliation: Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan; Epilepsy Center, Hiroshima University Hospital, Hiroshima, Japan. Electronic address: ishikan@hiroshima-u.ac.jp.
authors.forename: Nobutsune
authors.initials: N
authors.lastname: Ishikawa
authors.affiliation: Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan; Epilepsy Center, Hiroshima University Hospital, Hiroshima, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan; Epilepsy Center, Hiroshima University Hospital, Hiroshima, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Fujii
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000473:pathology / Q000503:physiopathology*; D002892:Chromosomes, Human, Pair 22; D004827:Epilepsy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human
keywords: 22q13.3 deletion; Epileptic spasms; Lennox–Gastaut syndrome; SHANK3; Topiramate