title: Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
abstract: The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with epileptic encephalopathy. Although all mutations were of de novo origin, they were located in the same positions as previously reported pathogenic mutations. These recurrent occurrences of de novo mutations in the same loci may indicate hot spots of nucleotide alteration.
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: 0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders , Shizuoka, Japan.
authors.forename: Nobusuke
authors.initials: N
authors.lastname: Kimura
authors.affiliation: National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders , Shizuoka, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Mogami
authors.affiliation: National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders , Shizuoka, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Usui
authors.affiliation: National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders , Shizuoka, Japan.
authors.forename: Rumiko
authors.initials: R
authors.lastname: Takayama
authors.affiliation: National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders , Shizuoka, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Ikeda
authors.affiliation: National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders , Shizuoka, Japan.
authors.forename: Katsumi
authors.initials: K
authors.lastname: Imai