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Toshiyuki Yamamoto
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. |
| Journal | Formal name：Brain & development Abbreviation：Brain Dev ISSN code：(1872-7131)0387-7604(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 37(9),pp.874-9 |
| Author and coauthor | Yoshitomi S, Takahashi Y, Ishizuka M, Yamaguchi T, Watanabe A, Nasu H, Ueda Y, Ohtani H, Ikeda H, Imai K, Shigematsu H, Inoue Y, Tanahashi Y, Aiba K, Ohta H, Shimada S, Yamamoto T |
| Publication date | 2015/10 |
| Summary | We encountered three patients with 2q24.3 microduplication diagnosed by Array comparative genomic hybridization array (aCGH). They developed partial seizures and epileptic spasms in their early infantile periods and showed remarkable developmental delay, although their seizures disappeared from 11 to 14 months of age. One of three patients had 2q24.3 microduplication which excludes SCN1A. Therefore, characteristics of epilepsy with 2q24.3 microduplication do not necessarily need duplication of SCN1A. This study suggested that 2q24.3 microduplication is one of the causes for early infantile epileptic spasms. Epileptic spasms associated with 2q24.3 microduplications may have better seizure outcome comparing with other etiologies. |
| DOI | 10.1016/j.braindev.2015.03.001 |
| PMID | 25843248 |