title: A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Nakamura
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Nishiyama
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Kodera
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan. Electronic address: hsaitsu@yokohama-cu.ac.jp.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Neonatology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Jinnou
authors.affiliation: Department of Neonatology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Ohki
authors.affiliation: Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Yokochi
authors.affiliation: Department of Child Neurology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Tohru
authors.initials: T
authors.lastname: Okanishi
authors.affiliation: Department of Child Neurology, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Enoki
mesh_terms: D004831:Epilepsies, Myoclonic / Q000150:complications / Q000235:genetics*; D016368:Frameshift Mutation; D051528:Guanylate Kinases / Q000235:genetics*; D006801:Humans; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000150:complications / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000150:complications / Q000235:genetics*
chemical_list: C106868:CASK kinases; D051528:Guanylate Kinases