title: Late-onset epileptic spasms in a female patient with a CASK mutation.
abstract: We report a female patient with late-onset epileptic spasms (ESs) of a rare form, distinct from those seen in typical West syndrome, in association with a heterozygous frameshift CASK mutation (c.1896dupC (p.C633fs(∗)2)). She has a phenotype of microcephaly with pontine and cerebellar hypoplasia (MICPCH), and has had intractable ESs in clusters since 3 years 8 months of age with multifocal, particularly bifrontal, epileptic discharges in electroencephalogram. The available literature on patients with both ESs and CASK mutations has been reviewed, revealing that four of the five female children, including the present girl, had late-onset ESs, in contrast to the four males, who tended toward early-onset ESs.
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan; Department of Pediatrics, Kakogawa West City Hospital, Kakogawa, Japan.
authors.forename: Tomoshi
authors.initials: T
authors.lastname: Nakajiri
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan. Electronic address: k_koba@md.okayama-u.ac.jp.
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: Makio
authors.initials: M
authors.lastname: Oka
authors.affiliation: Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
authors.forename: Fuyuki
authors.initials: F
authors.lastname: Miya
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: Harumi
authors.initials: H
authors.lastname: Yoshinaga
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D004827:Epilepsy / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation; D051528:Guanylate Kinases / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D012737:Sex Factors; D013035:Spasm / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: C106868:CASK kinases; D051528:Guanylate Kinases
keywords: CASK; Epilepsy; Late-onset; Mutation