|
YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
|
| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome. |
| Journal | Formal name：American Journal of Medical Genetics. Part A Abbreviation：Am J Med Genet A ISSN code：15524825/15524833 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 38(1),pp.109-112 |
| Author and coauthor | Ishikawa N, Kobayashi Y, Fujii Y, Yamamoto T, Kobayashi M. |
| Publication date | 2015/01 |
| Summary | 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 |