Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome.

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第一作者： Hajime,Miyata

第一单位： Department of Neuropathology, Research Institute for Brain and Blood Vessels, Akita Cerebrospinal and Cardiovascular Center, Akita, Japan.

作者： Hajime,Miyata ^[1] ; Soichiro,Fushimi ^[2] ; Yoko,Ota ^[3] ; Harry V,Vinters ^[2] ; Kaori,Adachi ^[4] ; Eiji,Nanba ^[5] ; Tomoyuki,Akiyama ^[6]

作者单位： Department of Neuropathology, Research Institute for Brain and Blood Vessels, Akita Cerebrospinal and Cardiovascular Center, Akita, Japan. ^[1] Department of Pathology and Experimental Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan. ^[2] Department of Pathology, Himeji Red Cross Hospital, Himeji, Japan. ^[3] Department of Pathology & Laboratory Medicine (Neuropathology) and Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA. ^[4] Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan. ^[5] Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan. ^[6] Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan. ^[7] Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan. ^[8]

关键词 West syndrome cortical tuber focal cortical dysplasia subependymal nodule tuberous sclerosis complex

主题词儿童(Child);癫痫(Epilepsy);人类(Humans);婴儿(Infant);男(雄)性(Male);痉挛, 婴儿(Spasms, Infantile);结节性硬化症(Tuberous Sclerosis)

DOI 10.1111/neup.12700

PMID 33181865

发布时间 2021-10-28

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