YAMAMOTO Toshiyuki    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor
Article types	Original article
Language	English
Peer review	Non peer reviewed
Title	Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
Journal	Formal name：Epilepsia
Volume, Issue, Page	52(7),pp.e66-69
Author and coauthor	Akihisa Okumura, Toshiyuki Yamamoto, Keiko Shimojima, Yoshinobu Honda, Shinpei Abe, Mitsuru Ikeno, Toshiaki Shimizu
Publication date	2011/07
Summary	There are only two reports on epileptic patients associated with microduplication of 2q. We found a de novo duplication of chromosome 2q24.2q24.3 in another infant with neonatal epilepsy. The patient had refractory focal seizures since the third day of life. Her seizures were refractory against phenobarbital and levetiracetam, but were controlled by valproate. Array comparative genomic hybridization revealed a 5.3-Mb duplication of 2q24.2q24.3, where at least 22 genes including a cluster of voltage-gated sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A) and one noncoding RNA are located.
DOI	10.1111