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

[21] CLINICAL HETEROGENEITY ASSOCIATED WITH DELETIONS IN THE LONG ARM OF CHROMOSOME-15 - REPORT OF 3 NEW CASES AND THEIR POSSIBLE GENETIC SIGNIFICANCE
KAPLAN, LC
WHARTON, R
ELIAS, E
MANDELL, F
DONLON, T
LATT, SA
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (01): : 45 - 53
[22] UBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T
Lalande, M
Wagstaff, J
[J]. NATURE GENETICS, 1997, 15 (01) : 70 - 73
[23] KNOLL JHM, 1990, AM J HUM GENET, V47, P149
[24] ANGELMAN AND PRADER-WILLI SYNDROMES SHARE A COMMON CHROMOSOME-15 DELETION BUT DIFFER IN PARENTAL ORIGIN OF THE DELETION
KNOLL, JHM
NICHOLLS, RD
MAGENIS, RE
GRAHAM, JM
LALANDE, M
LATT, SA
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02): : 285 - 290
[25] CYTOGENETIC AND MOLECULAR STUDIES IN THE PRADER-WILLI AND ANGELMAN SYNDROMES - AN OVERVIEW
KNOLL, JHM
WAGSTAFF, J
LALANDE, M
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (01): : 2 - &
[26] KOENIG SB, 1993, REFRACT CORNEAL SURG, V9, P383
[27] ANGELMAN SYNDROME - A NEUROPATHOLOGICAL STUDY
KYRIAKIDES, T
HALLAM, LA
HOCKEY, A
SILBERSTEIN, P
KAKULAS, BA
[J]. ACTA NEUROPATHOLOGICA, 1992, 83 (06) : 675 - 678
[28] LAAN LAE, UNPUB ANGELMAN SYNDR
[29] Laan LAEM, 1996, AM J MED GENET, V66, P356, DOI 10.1002/(SICI)1096-8628(19961218)66:3<356::AID-AJMG21>3.3.CO
[30] 2-U

← 1 2 3 4 5 6 7 →