Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay

被引：0

作者：

Davies, Angela F. ^{[1
]}

Ogilvie, Caroline Mackie ^{[1
]}

机构：

[1] Guys Hosp, Dept Cytogenet, London SE1 9RT, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 18期

关键词：

EEG; CHROMOSOME-15; PHENOTYPES; DIAGNOSIS; DELETION;

D O I：

10.1002/ajmg.a.31879

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：2189 / 2191

页数：3

共 20 条

[1] THE EEG IN EARLY DIAGNOSIS OF THE ANGELMAN (HAPPY PUPPET) SYNDROME [J].

BOYD, SG ;

HARDEN, A ;

PATTON, MA .

EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (05) :508-513

[2]

CROLLA JA, 1995, HUM GENET, V95, P161

[3] Supernumerary marker chromosomes derived from chromosome 15:: analysis of 32 new cases [J].

Eggermann, K ;

Mau, UA ;

Bujdosó, G ;

Koltai, E ;

Engels, H ;

Schubert, R ;

Eggermann, T ;

Raff, R ;

Schwanitz, G .

CLINICAL GENETICS, 2002, 62 (01) :89-93

[4]

Espay AJ, 2005, EPILEPTIC DISORD, V7, P227

[5] Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions [J].

Gimelli, G ;

Pujana, MA ;

Patricelli, MG ;

Russo, S ;

Giardino, D ;

Larizza, L ;

Cheung, J ;

Armengol, L ;

Schinzel, A ;

Estivill, X ;

Zuffardi, O .

HUMAN MOLECULAR GENETICS, 2003, 12 (08) :849-858

[6] Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy [J].

Kumada, T ;

Ito, M ;

Miyajima, T ;

Fujii, T ;

Okuno, T ;

Go, T ;

Hattori, H ;

Yoshioka, M ;

Kobayashi, K ;

Kanazawa, O ;

Tohyama, J ;

Akasaka, N ;

Kamimura, T ;

Sasagawa, M ;

Amagane, H ;

Mutoh, K ;

Yamori, Y ;

Kanda, T ;

Yoshida, N ;

Hirota, H ;

Tanaka, R ;

Hamada, Y .

BRAIN & DEVELOPMENT, 2005, 27 (02) :127-134

[7]

KYLLERMAN M, 1995, AM J MED GENET, V59, P405, DOI 10.1002/ajmg.1320590331

[8] Evolution of epilepsy and EEG findings in Angelman syndrome [J].

Laan, LAEM ;

Renier, WO ;

Arts, WFM ;

Buntinx, IM ;

vanderBurgt, IJAM ;

Stroink, H ;

Beuten, J ;

Zwinderman, KH ;

vanDijk, JG ;

Brouwer, OF .

EPILEPSIA, 1997, 38 (02) :195-199

[9] Distinct phenotypes distinguish the molecular classes of Angelman syndrome [J].

Lossie, AC ;

Whitney, MM ;

Amidon, D ;

Dong, HJ ;

Chen, P ;

Theriaque, D ;

Hutson, A ;

Nicholls, RD ;

Zori, RT ;

Williams, CA ;

Driscoll, DJ .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (12) :834-845

[10] Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy [J].

Mann, SM ;

Wang, NJ ;

Liu, DH ;

Wang, L ;

Schultz, RA ;

Dorrani, N ;

Sigman, M ;

Schanen, NC .

HUMAN GENETICS, 2004, 115 (02) :104-111

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