title: Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
abstract: 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.
authors.affiliation: Department of Pediatrics, Juntendo University Faculty of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, Japan. okumura@juntendo.ac.jp
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Honda
authors.forename: Shinpei
authors.initials: S
authors.lastname: Abe
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Ikeno
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D058674:Chromosome Duplication / Q000235:genetics* / Q000502:physiology; D002900:Chromosomes, Human, 1-3 / Q000235:genetics* / Q000502:physiology; D004827:Epilepsy / Q000151:congenital / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy / Q000235:genetics*; D007621:Karyotyping; D012640:Seizures / Q000151:congenital / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics
chemical_list: D000927:Anticonvulsants; D015222:Sodium Channels