Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

被引：1

作者：

Sugawara, Yuji ^{[1
,6
]}

Mizuno, Tomoko ^{[1
]}

Moriyama, Kengo ^{[1
]}

Ishiwata, Hisako ^{[2
]}

Kato, Mitsuhiro ^{[3
]}

Nakashima, Mitsuko ^{[4
,5
]}

Mizuguchi, Takeshi ^{[4
]}

Matsumoto, Naomichi ^{[4
]}

机构：

[1] Tokyo Med & Dent Univ, Dept Pediat, Bunkyo Ku, Tokyo, Japan

[2] Home Care Clin Children Aozora Sumida, Sumida Ku, Tokyo, Japan

[3] Showa Univ, Dept Pediat, Sch Med, Shinagawa Ku, Tokyo, Japan

[4] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa, Japan

[5] Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, Hamamatsu, Shizuoka, Japan

[6] Soka Municipal Hosp, Dept Pediat, Soka, Saitama, Japan

来源：

NEUROLOGY-GENETICS | 2020年 / 6卷 / 06期

关键词：

D O I：

10.1212/NXG.0000000000000527

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Developmental and epileptic encephalopathy (DEE) is a spectrum of neurodevelopmental conditions in which psychomotor delay or regression arises in association with frequent epileptic activity. In the past decade, molecular genetics studies showed that DEE is caused by environmental insults and by genetic factors; several de novo pathogenic variants were also identified.(1</SUP)

引用

页数：3

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