Angelman syndrome: a review of clinical and genetic aspects

被引：57

作者：

Laan, LAEM

van Haeringen, A

Brouwer, OF

机构：

[1] Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands

[2] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

来源：

CLINICAL NEUROLOGY AND NEUROSURGERY | 1999年 / 101卷 / 03期

关键词：

Angelman syndrome; clinical aspects; epilepsy; genetics; review;

D O I：

10.1016/S0303-8467(99)00030-X

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This paper reviews Angelman syndrome (AS) with regard to the clinical features in childhood and adulthood, epileptic seizures and EEG findings, neuroimaging studies and the present knowledge on the genetic mechanisms underlying this syndrome. Different clinical phenotypes and genotypes of AS are described, including chromosome 15q11-13 deletion, uniparental disomy, methylation imprinting abnormalities and mutations in the UBE3A gene. (C) 1999 Elsevier Science B.V. All rights reserved.

引用

页码：161 / 170

页数：10

共 68 条

[1] ANGELMAN H, 1965, DEV MED CHILD NEUROL, V7, P681
[2] MOLECULAR STUDY OF CHROMOSOME-15 IN 22 PATIENTS WITH ANGELMANS SYNDROME
BEUTEN, J
MANGELSCHOTS, K
BUNTINX, I
COUCKE, P
BROUWER, OF
HENNEKAM, RCM
VAN BROECKHOVEN, C
WILLEMS, PJ
[J]. HUMAN GENETICS, 1993, 90 (05) : 489 - 495
[3] THE ANGELMAN OR HAPPY PUPPET SYNDROME - CLINICAL AND ELECTROENCEPHALOGRAPHIC FEATURES AND CEREBRAL BLOOD-FLOW
BJERRE, I
FAGHER, B
RYDING, E
ROSEN, I
[J]. ACTA PAEDIATRICA SCANDINAVICA, 1984, 73 (03): : 398 - 402
[4] HAPPY PUPPET SYNDROME
BOWER, BD
JEAVONS, PM
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1967, 42 (223) : 298 - &
[5] THE EEG IN EARLY DIAGNOSIS OF THE ANGELMAN (HAPPY PUPPET) SYNDROME
BOYD, SG
HARDEN, A
PATTON, MA
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (05) : 508 - 513
[6] INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15
BUITING, K
SAITOH, S
GROSS, S
DITTRICH, B
SCHWARTZ, S
NICHOLLS, RD
HORSTHEMKE, B
[J]. NATURE GENETICS, 1995, 9 (04) : 395 - 400
[7] CLINICAL PROFILE OF ANGELMAN SYNDROME AT DIFFERENT AGES
BUNTINX, IM
HENNEKAM, RCM
BROUWER, OF
STROINK, H
BEUTEN, J
MANGELSCHOTS, K
FRYNS, JP
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (02): : 176 - 183
[8] Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
Burger, J
Buiting, K
Dittrich, B
Gross, S
Lich, C
Sperling, K
Horsthemke, B
Reis, A
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) : 88 - 93
[9] CLINICAL RESEARCH ON ANGELMAN SYNDROME IN THE UNITED-KINGDOM - OBSERVATIONS ON 82 AFFECTED INDIVIDUALS
CLAYTONSMITH, J
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (01): : 12 - 15
[10] ANGELMAN SYNDROME
CLAYTONSMITH, J
PEMBREY, ME
[J]. JOURNAL OF MEDICAL GENETICS, 1992, 29 (06) : 412 - 415

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