TY - JOUR
T1 - Late-onset epileptic spasms in a female patient with a CASK mutation
AU - Nakajiri, Tomoshi
AU - Kobayashi, Katsuhiro
AU - Okamoto, Nobuhiko
AU - Oka, Makio
AU - Miya, Fuyuki
AU - Kosaki, Kenjiro
AU - Yoshinaga, Harumi
N1 - Funding Information:
This study was supported by Health and Labour Research Grants in 2013 and 2014 by the Ministry of Health, Labour and Welfare in Japan. K. Kobayashi was supported by a Grant-in-Aid from the Ministry of Education, Culture, Sports, Science, and Technology , Japan (No. 24591513 ). H. Yoshinaga was supported in part by the Japan Epilepsy Research Foundation.
Publisher Copyright:
© 2015 The Japanese Society of Child Neurology.
PY - 2015/10/1
Y1 - 2015/10/1
N2 - 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 3years 8months 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.
AB - 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 3years 8months 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.
KW - CASK
KW - Epilepsy
KW - Late-onset
KW - Mutation
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U2 - 10.1016/j.braindev.2015.02.007
DO - 10.1016/j.braindev.2015.02.007
M3 - Article
C2 - 25765806
AN - SCOPUS:84940575359
SN - 0387-7604
VL - 37
SP - 919
EP - 923
JO - Brain and Development
JF - Brain and Development
IS - 9
ER -