A case of CDKL5 disorder: Improved ADL by simple treatment strategy for intractable epileptic seizures

Tatsuhiko Shike, Yukitoshi Takahashi, Nobusuke Kimura, Katsumi Imai, Toshiyuki Yamamoto, Takao Takahashi

研究成果: Article査読

抄録

CDKL5 gene mutations are the cause of symptomatic infantile epilepsy in some patients. Such patients present with partial seizures and characteristic hand movements that are often observed in patients with Rett syndrome. This clinical entity has recently been recognized as CDKL5 disorder. In a girl with CDKL5 disorder, who had been treated with combinatory therapy using many anti-epileptic drugs, we were able to control the seizures with valproate monotherapy. As a result of the monotherapy, the patient's seizures ameliorated temporarily and her quality of life improved. Some patients show improvement in seizures during the natural course of CDKL5 disorder. Therefore, there is a possibility that this was also the case in our patient. However, the patient and her family were satisfied with the improvement in quality of life after the withdrawal of the multi-drug combinatory therapy. Thus, it is important to select the best therapy for patients with intractable epilepsy through long term follow-up.

本文言語English
ページ(範囲)28-31
ページ数4
ジャーナルNo To Hattatsu
49
1
出版ステータスPublished - 2017

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 医学(全般)
  • 臨床神経学

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