title: PRRT2 mutation in Japanese children with benign infantile epilepsy.
abstract: Mutations in PRRT2 genes have been identified as a major cause of benign infantile epilepsy and/or paroxysmal kinesigenic dyskinesia. We explored mutations in PRRT2 in Japanese patients with BIE as well as its related conditions including convulsion with mild gastroenteritis and benign early infantile epilepsy. We explored PRRT2 mutations in Japanese children who had had unprovoked infantile seizures or convulsion with mild gastroenteritis. The probands included 16 children with benign infantile epilepsy, 6 children with convulsions with mild gastroenteritis, and 2 siblings with benign early infantile epilepsy. In addition, we recruited samples from family members when PRRT2 mutation was identified in the proband. Statistical analyses were performed to identify differences in probands with benign infantile epilepsy according to the presence or absence of PRRT2 mutation. Among a total of 24 probands, PRRT2 mutations was identified only in 6 probands with benign infantile epilepsy. A common insertion mutation, c.649_650insC, was found in 5 families and a novel missense mutation, c.981C>G (I327M), in one. The family history of paroxysmal kinesigenic dyskinesia was more common in probands with PRRT2 mutations than in those without mutations. Our study revealed that PRRT2 mutations are common in Japanese patients with benign infantile epilepsy, especially in patients with a family history of paroxysmal kinesigenic dyskinesia.
authors.affiliation: Department of Pediatrics, Juntendo University Faculty of Medicine, Japan. okumura@juntendo.ac.jp
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Kubota
authors.forename: Shinpei
authors.initials: S
authors.lastname: Abe
authors.forename: Shintaro
authors.initials: S
authors.lastname: Yamashita
authors.forename: Katsumi
authors.initials: K
authors.lastname: Imai
authors.forename: Tohru
authors.initials: T
authors.lastname: Okanishi
authors.forename: Hideo
authors.initials: H
authors.lastname: Enoki
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fukasawa
authors.forename: Takuya
authors.initials: T
authors.lastname: Tanabe
authors.forename: Leanne M
authors.initials: LM
authors.lastname: Dibbens
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics; D004252:DNA Mutational Analysis; D004421:Dystonia; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human