Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

Kobayashi Yu; Tohyama Jun; Takahashi Yukitoshi; Goto Tomohide; Haginoya Kazuhiro; Inoue Takeshi; Kubota Masaya; Fujita Hiroshi; Honda Ryoko; Ito Masahiro; Kishimoto Kanako; Nakamura Kazuyuki; Sakai Yasunari; Takanashi Jun-ichi; Tanaka Manabu; Tanda Koichi; Tominaga Koji; Yoshioka Seiichiro; Kato Mitsuhiro; Nakashima Mitsuko; Saitsu Hirotomo; Matsumoto Naomichi

首页> 外文期刊>Brain & Development >Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

【24h】

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

机译：日本患者患者患者临床表现和癫痫治疗方法

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Objective: Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments.

机译：目的：患有病原体依赖性激酶样5基因（CDK15）变体的患者被指定为CDKL5缺陷障碍（CDD）。本研究旨在描绘日本CDD患者的临床特征，并阐明可能的适当治疗方法。

著录项

来源
《Brain & Development》 |2021年第4期|共10页
作者
Kobayashi Yu; Tohyama Jun; Takahashi Yukitoshi; Goto Tomohide; Haginoya Kazuhiro; Inoue Takeshi; Kubota Masaya; Fujita Hiroshi; Honda Ryoko; Ito Masahiro; Kishimoto Kanako; Nakamura Kazuyuki; Sakai Yasunari; Takanashi Jun-ichi; Tanaka Manabu; Tanda Koichi; Tominaga Koji; Yoshioka Seiichiro; Kato Mitsuhiro; Nakashima Mitsuko; Saitsu Hirotomo; Matsumoto Naomichi;
展开▼
作者单位

NHO Nishiniigata Chuo Hosp Dept Child Neurol Niigata Japan;

NHO Nishiniigata Chuo Hosp Dept Child Neurol Niigata Japan;

NHO Shizuoka Inst Epilepsy &

Neurol Disorders Natl Epilepsy Ctr Shizuoka Japan;

Kanagawa Childrens Med Ctr Div Neurol Yokohama Kanagawa Japan;

Miyagi Childrens Hosp Dept Pediat Neurol Sendai Miyagi Japan;

Osaka City Gen Hosp Dept Pediat Neurol Osaka Japan;

Natl Ctr Child Hlth &

Dev Div Neurol Tokyo Japan;

NHO Aomori Hosp Dept Pediat Aomori Japan;

Natl Hosp Org Nagasaki Med Ctr Dept Pediat Nagasaki Japan;

Tokyo Metropolitan Bokutoh Hosp Dept Pediat Tokyo Japan;

Osaka Hosp Dept Pediat Japan Community Healthcare Org JCHO Osaka Japan;

Yamagata Univ Dept Pediat Fac Med Yamagata Japan;

Kyushu Univ Grad Sch Med Sci Dept Pediat Fukuoka Japan;

Tokyo Womens Med Univ Dept Pediat Yachiyo Med Ctr Yachiyo Japan;

Saitama Childrens Med Ctr Div Gen Pediat Saitama Japan;

Japanese Red Cross Kyoto Daiichi Hosp Dept Pediat Kyoto Japan;

Osaka Univ Grad Sch Med Dept Pediat Suita Osaka Japan;

Ritto Yoshioka Childrens Clin Ritto Japan;

Showa Univ Dept Pediat Sch Med Tokyo Japan;

Hamamatsu Univ Sch Med Dept Biochem Hamamatsu Shizuoka Japan;

Hamamatsu Univ Sch Med Dept Biochem Hamamatsu Shizuoka Japan;

Yokohama City Univ Dept Human Genet Grad Sch Med Yokohama Kanagawa Japan;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学;
关键词
CDKL5; Pathogenic variants; Developmental and epileptic encephalopathy; Involuntary movements; Antiepileptic drugs; Adrenocorticotrophic hormone; Ketogenic diet; Rational polytherapy;

机译：CDK15;致病变异;发育和癫痫脑病;非自愿运动;抗癫痫药物;肾上腺皮肤病激素;酮饮食;合理的聚集疗法;

相似文献

外文文献
中文文献
专利

1. Spinal cord injury in patients with systemic lupus Erythematosus Clinical manifestations, imaging characteristics and treatment [J] . Yamei Tang, Fusheng Zhang, Qingyu Shen, 中国神经再生研究（英文版） . 2007,第003期
2. Clinical characteristics of adult epilepsy patients in the 1997 Hong Kong epilepsy registry [J] . 中华医学杂志（英文版） . 2001,第001期
3. Clinical evolution and epilepsy outcome in three patients with CDKL5 CDKL5 ‐related developmental encephalopathy [J] . Bernardo Pia, Ferretti Alessandro, Terrone Gaetano, Epileptic disorders: international epilepsy journal with videotape . 2019,第3期

机译：三个患者CDK15 CDKL5复合发育脑病的临床演进和癫痫结果
4. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy [J] . Law Chun-Yiu, Chang Sharon Tzu-Lun, Cho Sun Young, Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2015,第Pta2期

机译：临床全外显子测序揭示了婴儿发作性癫痫患者中GNAO1的新型错义致病变异
5. CDKL5 mutations as a cause of severe epilepsy in infancy: Clinical and electroencephalographic long-term course in 4 patients [J] . J?hnJ., CaliebeA., VonSpiczakS., Journal of child neurology . 2013,第7期

机译：CDKL5突变是婴儿期严重癫痫的原因：4位患者的临床和脑电图长期疗程
6. Gene-based evidence for burden of rare pathogenic variants in pharmacogenes and oncogens of Czech breast cancer patients [C] . Maria Kovacova, Viktor Hlavac, Veronika Brynychova, IEEE International Conference on Bioinformatics and Biomedicine . 2019

机译：基于基因的证据表明捷克乳腺癌患者的药基因和致癌基因中罕见的致病性变异负担
7. Functional validation of candidate pathogenic variants for the personalized treatment of neoplastic and congenital disorders. [D] . Blackburn, Patrick Raymond. 2015

机译：个性化治疗肿瘤和先天性疾病的候选病原体功能验证。
8. Different Clinical Manifestations Related to Subvirilization in Three XY Patients With the Same Pathogenic Variant of Steroidogenic Factor 1 [O] . Maria Fernanda Ochoa, Francisca Yankovic, Helena Poggi, 2021

机译：三种XY患者的副病患者与类分子化因子1相同致病变异的不同临床表现。
9. Seizures and epilepsy in elderly patients of an urban area of Iran: clinical manifestation, differential diagnosis, etiology, and epilepsy subtypes [O] . Tabatabaei S. S., Delbari A., Salman-Roghani R., 100

机译：伊朗城市地区老年患者的癫痫发作和癫痫：临床表现，鉴别诊断，病因和癫痫亚型
10. Wilson's Disease. Clinical and Laboratory Manifestations in 40 Patients. [R] . Strickland, G. T., Leu, M. L. 1975

机译：威尔逊病。 40例临床和实验室表现。

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

摘要

著录项

相似文献

相关主题

期刊订阅