Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3

被引：17

作者：

Okumura, Akihisa ^{[1
]}

Yamamoto, Toshiyuki ^{[2
]}

Shimojima, Keiko ^{[2
]}

Honda, Yoshinobu ^{[3
]}

Abe, Shinpei

Ikeno, Mitsuru

Shimizu, Toshiaki

机构：

[1] Juntendo Univ, Dept Pediat, Sch Med, Fac Med,Bunkyo Ku, Tokyo 1138421, Japan

[2] Tokyo Womens Med Univ, Inst Integrated Med Sci, Tokyo, Japan

[3] Iwaki Kyoritsu Gen Hosp, Dept Premature & Neonatal Med, Iwaki, Fukushima, Japan

来源：

EPILEPSIA | 2011年 / 52卷 / 07期

关键词：

Neonatal epilepsy; Voltage-gated sodium channels; 2q duplication; Array comparative genomic hybridization; DYSMORPHIC FEATURES; 2Q DELETION; SCN1A; RETARDATION; 2Q24.3; SCN2A; GIRL; GENE;

D O I：

10.1111/j.1528-1167.2011.03139.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

There are only two reports on epileptic patients associated with microduplication of 2q. We found a de novo duplication of chromosome 2q24.2q24.3 in another infant with neonatal epilepsy. The patient had refractory focal seizures since the third day of life. Her seizures were refractory against phenobarbital and levetiracetam, but were controlled by valproate. Array comparative genomic hybridization revealed a 5.3-Mb duplication of 2q24. 2q24.3, where at least 22 genes including a cluster of voltage-gated sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A) and one noncoding RNA are located.

引用

页码：E66 / E69

页数：4

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[41] Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2 [J].

Tegay, D. H. ;

Chan, K. K. ;

Leung, L. ;

Wang, C. ;

Burkett, S. ;

Stone, G. ;

Stanyon, R. ;

Toriello, H. V. ;

Hatchwell, E. .

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[42] A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass [J].

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Pastorivo, Diana ;

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Serlenga, Carmela ;

Burattini, MariaGabriella ;

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