Late-onset epileptic spasms in a female patient with a CASK mutation

Tomoshi Nakajiri, Katsuhiro Kobayashi, Nobuhiko Okamoto, Makio Oka, Fuyuki Miya, Kenjiro Kosaki, Harumi Yoshinaga

研究成果: Article査読

10 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)919-923
ページ数5
ジャーナルBrain and Development
37
9
DOI
出版ステータスPublished - 2015 10 1

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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