ヤマモト　トシユキ   Toshiyuki Yamamoto   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome.
掲載誌名	正式名：American Journal of Medical Genetics. Part A 略　 称：Am J Med Genet A ISSNコード：15524825/15524833
掲載区分	国外
巻・号・頁	38(1),pp.109-112
著者・共著者	Ishikawa N, Kobayashi Y, Fujii Y, Yamamoto T, Kobayashi M.
発行年月	2015/01
概要	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.
DOI	10.1016/j.braindev.2015.06.002
PMID	26094094