-
1
-
-
0024619007
-
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
-
J.H. Knoll, R.D. Nicholls, R.E. Magenis, J.M. Graham Jr., M. Lalande, and S.A. Latt Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion Am J Med Genet 32 1989 285 290
-
(1989)
Am J Med Genet
, vol.32
, pp. 285-290
-
-
Knoll, J.H.1
Nicholls, R.D.2
Magenis, R.E.3
Graham, Jr.J.M.4
Lalande, M.5
Latt, S.A.6
-
2
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
T. Kishino, M. Lalande, and J. Wagstaff UBE3A/E6-AP mutations cause Angelman syndrome Nat Genet 15 1997 70 73
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
3
-
-
0030879482
-
Imprinted expression of the murine Angelman syndrome gene, UBE3A, in hippocampal and Purkinje neurons
-
U. Albrecht, J.S. Sutcliffe, and B.M. Cattanach Imprinted expression of the murine Angelman syndrome gene, UBE3A, in hippocampal and Purkinje neurons Nat Genet 17 1997 75 78
-
(1997)
Nat Genet
, vol.17
, pp. 75-78
-
-
Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
-
4
-
-
84860197780
-
Molecular and clinical aspects of Angelman syndrome
-
A. Dagli, K. Buiting, and C.A. Williams Molecular and clinical aspects of Angelman syndrome Mol Syndromol 2 2011 100 112
-
(2011)
Mol Syndromol
, vol.2
, pp. 100-112
-
-
Dagli, A.1
Buiting, K.2
Williams, C.A.3
-
5
-
-
84995191751
-
"puppet" children: A report on three cases
-
H. Angelman "Puppet" children: A report on three cases Dev Med Child Neurol 7 1965 681 683
-
(1965)
Dev Med Child Neurol
, vol.7
, pp. 681-683
-
-
Angelman, H.1
-
6
-
-
0020085439
-
The Angelman ("happy puppet") syndrome
-
C.A. Williams, and J.L. Frias The Angelman ("happy puppet") syndrome Am J Med Genet 11 1982 453 460
-
(1982)
Am J Med Genet
, vol.11
, pp. 453-460
-
-
Williams, C.A.1
Frias, J.L.2
-
7
-
-
0031228039
-
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
-
C. Rougeulle, H. Glatt, and M. Lalande The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain Nat Genet 17 1997 14 15
-
(1997)
Nat Genet
, vol.17
, pp. 14-15
-
-
Rougeulle, C.1
Glatt, H.2
Lalande, M.3
-
8
-
-
0037328861
-
Angelman syndrome: A review of the clinical and genetic aspects
-
J. Clayton-Smith, and L. Laan Angelman syndrome: A review of the clinical and genetic aspects J Med Genet 40 2003 87 95
-
(2003)
J Med Genet
, vol.40
, pp. 87-95
-
-
Clayton-Smith, J.1
Laan, L.2
-
9
-
-
33644865491
-
Angelman syndrome 2005: Updated consensus for diagnostic criteria
-
C.A. Williams, A.L. Beaudet, and J. Clayton-Smith Angelman syndrome 2005: Updated consensus for diagnostic criteria Am J Med Genet [A] 140 2006 413 418
-
(2006)
Am J Med Genet [A]
, vol.140
, pp. 413-418
-
-
Williams, C.A.1
Beaudet, A.L.2
Clayton-Smith, J.3
-
10
-
-
84858705453
-
Angelman syndrome
-
R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, University of Washington Seattle updated 2011
-
A.I. Dagli, and C.A. Williams Angelman syndrome R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, GeneReviews 1993 University of Washington Seattle updated 2011
-
(1993)
GeneReviews
-
-
Dagli, A.I.1
Williams, C.A.2
-
12
-
-
0034096456
-
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
-
W.P. Robinson, S.L. Christian, and B.D. Kuchinka Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15 Clin Genet 57 2000 349 358
-
(2000)
Clin Genet
, vol.57
, pp. 349-358
-
-
Robinson, W.P.1
Christian, S.L.2
Kuchinka, B.D.3
-
13
-
-
0343591718
-
On the prevalence of Angelman syndrome
-
M. Kyllerman On the prevalence of Angelman syndrome Am J Med Genet 59 1995 403 405
-
(1995)
Am J Med Genet
, vol.59
, pp. 403-405
-
-
Kyllerman, M.1
-
14
-
-
0029648026
-
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county
-
M.B. Petersen, K. Brøndum-Nielsen, L.K. Hansen, and K. Wulff Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county Am J Med Genet 60 1995 261 262
-
(1995)
Am J Med Genet
, vol.60
, pp. 261-262
-
-
Petersen, M.B.1
Brøndum-Nielsen, K.2
Hansen, L.K.3
Wulff, K.4
-
15
-
-
0031770939
-
Angelman syndrome: Are the estimates too low?
-
R.H. Buckley, N. Dinno, and P. Weber Angelman syndrome: Are the estimates too low? Am J Med Genet 80 1998 385 390
-
(1998)
Am J Med Genet
, vol.80
, pp. 385-390
-
-
Buckley, R.H.1
Dinno, N.2
Weber, P.3
-
16
-
-
78650675939
-
Angelman syndrome: Mutations influence features in early childhood
-
W.H. Tan, C.A. Bacino, and S.A. Skinner Angelman syndrome: Mutations influence features in early childhood Am J Med Genet [A] 1 2011 81 90
-
(2011)
Am J Med Genet [A]
, vol.1
, pp. 81-90
-
-
Tan, W.H.1
Bacino, C.A.2
Skinner, S.A.3
-
17
-
-
0028964548
-
Clinical profile of Angelman syndrome at different ages
-
I.M. Buntinx, R.C. Hennekam, and O.F. Brouwer Clinical profile of Angelman syndrome at different ages Am J Med Genet 56 1995 176 183
-
(1995)
Am J Med Genet
, vol.56
, pp. 176-183
-
-
Buntinx, I.M.1
Hennekam, R.C.2
Brouwer, O.F.3
-
18
-
-
0040920369
-
-
Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. World Wide Web URL:. Accessed July 1, 2012
-
Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. World Wide Web URL: http://omim.org/. Accessed July 1, 2012.
-
Online Mendelian Inheritance in Man
-
-
-
19
-
-
15144357226
-
Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
-
B.A. Minassian, T.M. DeLorey, and R.W. Olsen Angelman syndrome: Correlations between epilepsy phenotypes and genotypes Ann Neurol 43 1998 485 493
-
(1998)
Ann Neurol
, vol.43
, pp. 485-493
-
-
Minassian, B.A.1
Delorey, T.M.2
Olsen, R.W.3
-
20
-
-
0032987223
-
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients
-
A. Moncla, P. Malzac, and M.A. Voelckel Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients Eur J Hum Genet 7 1999 131 139
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 131-139
-
-
Moncla, A.1
Malzac, P.2
Voelckel, M.A.3
-
21
-
-
18244383565
-
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
-
A.C. Lossie, M.M. Whitney, and D. Amidon Distinct phenotypes distinguish the molecular classes of Angelman syndrome J Med Genet 38 2001 834 845
-
(2001)
J Med Genet
, vol.38
, pp. 834-845
-
-
Lossie, A.C.1
Whitney, M.M.2
Amidon, D.3
-
22
-
-
0031116041
-
GABA and epileptogenesis
-
R.W. Olsen, and M. Avoli GABA and epileptogenesis Epilepsia 38 1997 399 407
-
(1997)
Epilepsia
, vol.38
, pp. 399-407
-
-
Olsen, R.W.1
Avoli, M.2
-
23
-
-
70350349099
-
Angelman syndrome: Current understanding and research prospects
-
B. Dan Angelman syndrome: Current understanding and research prospects Epilepsia 50 2009 2331 2339
-
(2009)
Epilepsia
, vol.50
, pp. 2331-2339
-
-
Dan, B.1
-
24
-
-
0030442292
-
Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions
-
J. Burger, J. Kunze, K. Sperling, and A. Reis Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions Am J Med Genet 66 1996 221 226
-
(1996)
Am J Med Genet
, vol.66
, pp. 221-226
-
-
Burger, J.1
Kunze, J.2
Sperling, K.3
Reis, A.4
-
25
-
-
77957374544
-
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
-
J.K. Gentile, W.H. Tan, and L.T. Horowitz A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations J Dev Behav Pediatr 31 2010 592 601
-
(2010)
J Dev Behav Pediatr
, vol.31
, pp. 592-601
-
-
Gentile, J.K.1
Tan, W.H.2
Horowitz, L.T.3
-
26
-
-
0031050904
-
Evolution of epilepsy and EEG findings in Angelman syndrome
-
L.A. Laan, W.O. Renier, and W.F. Arts Evolution of epilepsy and EEG findings in Angelman syndrome Epilepsia 38 1997 195 199
-
(1997)
Epilepsia
, vol.38
, pp. 195-199
-
-
Laan, L.A.1
Renier, W.O.2
Arts, W.F.3
-
27
-
-
0031732092
-
Parental view of epilepsy in Angelman syndrome: A questionnaire study
-
M. Ruggieri, and M.A. McShane Parental view of epilepsy in Angelman syndrome: A questionnaire study Arch Dis Child 79 1998 423 426
-
(1998)
Arch Dis Child
, vol.79
, pp. 423-426
-
-
Ruggieri, M.1
McShane, M.A.2
-
28
-
-
14844312371
-
Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome
-
M. Galvan-Manso, J. Campistol, J. Conill, and F.X. Sanmarti Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome Epileptic Disord 7 2005 19 25
-
(2005)
Epileptic Disord
, vol.7
, pp. 19-25
-
-
Galvan-Manso, M.1
Campistol, J.2
Conill, J.3
Sanmarti, F.X.4
-
29
-
-
70350359069
-
Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options
-
R.L. Thibert, K.D. Conant, and E.K. Braun Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options Epilepsia 50 2009 2369 2376
-
(2009)
Epilepsia
, vol.50
, pp. 2369-2376
-
-
Thibert, R.L.1
Conant, K.D.2
Braun, E.K.3
-
30
-
-
30344466930
-
Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13
-
K.D. Valente, C.P. Koiffmann, and C. Fridman Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13 Arch Neurol 63 2006 122 128
-
(2006)
Arch Neurol
, vol.63
, pp. 122-128
-
-
Valente, K.D.1
Koiffmann, C.P.2
Fridman, C.3
-
31
-
-
0027092556
-
Epilepsy in Angelman syndrome associated with chromosome 15q deletion
-
A. Matsumoto, T. Kumagai, K. Miura, S. Miyazaki, C. Hayakawa, and T. Yamanaka Epilepsy in Angelman syndrome associated with chromosome 15q deletion Epilepsia 33 1992 1083 1090
-
(1992)
Epilepsia
, vol.33
, pp. 1083-1090
-
-
Matsumoto, A.1
Kumagai, T.2
Miura, K.3
Miyazaki, S.4
Hayakawa, C.5
Yamanaka, T.6
-
32
-
-
0033041221
-
Diagnosis of Angelman syndrome: Clinical and EEG criteria
-
S. Buoni, S. Grosso, L. Pucci, and A. Fois Diagnosis of Angelman syndrome: Clinical and EEG criteria Brain Dev 21 1999 296 302
-
(1999)
Brain Dev
, vol.21
, pp. 296-302
-
-
Buoni, S.1
Grosso, S.2
Pucci, L.3
Fois, A.4
-
33
-
-
0028803823
-
Seizure and EEG patterns in Angelman's syndrome
-
F. Viani, A. Romeo, and M. Viri Seizure and EEG patterns in Angelman's syndrome J Child Neurol 10 1995 467 471
-
(1995)
J Child Neurol
, vol.10
, pp. 467-471
-
-
Viani, F.1
Romeo, A.2
Viri, M.3
-
34
-
-
22244475450
-
Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome
-
N. Uemura, A. Matsumoto, and M. Nakamura Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome Brain Dev 27 2005 383 388
-
(2005)
Brain Dev
, vol.27
, pp. 383-388
-
-
Uemura, N.1
Matsumoto, A.2
Nakamura, M.3
-
36
-
-
0023925498
-
The EEG in early diagnosis of the Angelman (happy puppet) syndrome
-
S.G. Boyd, A. Harden, and M.A. Patton The EEG in early diagnosis of the Angelman (happy puppet) syndrome Eur J Pediatr 147 1988 508 513
-
(1988)
Eur J Pediatr
, vol.147
, pp. 508-513
-
-
Boyd, S.G.1
Harden, A.2
Patton, M.A.3
-
37
-
-
0027074912
-
Angelman syndrome in three siblings: Characteristic epileptic seizures and EEG abnormalities
-
T. Sugimoto, A. Yasuhara, and T. Ohta Angelman syndrome in three siblings: Characteristic epileptic seizures and EEG abnormalities Epilepsia 33 1992 1078 1082
-
(1992)
Epilepsia
, vol.33
, pp. 1078-1082
-
-
Sugimoto, T.1
Yasuhara, A.2
Ohta, T.3
-
38
-
-
12744254709
-
Relationship between severity of epilepsy and developmental outcome in Angelman syndrome
-
Y. Ohtsuka, K. Kobayashi, and H. Yoshinaga Relationship between severity of epilepsy and developmental outcome in Angelman syndrome Brain Dev 27 2005 95 100
-
(2005)
Brain Dev
, vol.27
, pp. 95-100
-
-
Ohtsuka, Y.1
Kobayashi, K.2
Yoshinaga, H.3
-
39
-
-
25844483407
-
Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation
-
A.J. Espay, D.M. Andrade, R.A. Wennberg, and A.E. Lang Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation Epileptic Disord 7 2005 227 230
-
(2005)
Epileptic Disord
, vol.7
, pp. 227-230
-
-
Espay, A.J.1
Andrade, D.M.2
Wennberg, R.A.3
Lang, A.E.4
-
40
-
-
33846242577
-
Myoclonic status in nonprogressive encephalopathies: Study of 29 cases
-
R.H. Caraballo, R.O. Cersosimo, A. Espeche, H.A. Arroyo, and N. Fejerman Myoclonic status in nonprogressive encephalopathies: Study of 29 cases Epilepsia 48 2007 107 113
-
(2007)
Epilepsia
, vol.48
, pp. 107-113
-
-
Caraballo, R.H.1
Cersosimo, R.O.2
Espeche, A.3
Arroyo, H.A.4
Fejerman, N.5
-
41
-
-
16544375951
-
Myoclonic status in non-progressive encephalopathies
-
B. Dalla Bernardina, E. Fontana, and F. Darra Myoclonic status in non-progressive encephalopathies Adv Neurol 95 2005 59 70
-
(2005)
Adv Neurol
, vol.95
, pp. 59-70
-
-
Dalla Bernardina, B.1
Fontana, E.2
Darra, F.3
-
43
-
-
0034945669
-
Angelman syndrome: Evolution of the phenotype in adolescents and adults
-
J. Clayton-Smith Angelman syndrome: Evolution of the phenotype in adolescents and adults Dev Med Child Neurol 43 2001 476 480
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 476-480
-
-
Clayton-Smith, J.1
-
44
-
-
84861950914
-
Maternal loss of UBE3A produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects
-
M.L. Wallace, A.C. Burette, R.J. Weinberg, and B.D. Philpot Maternal loss of UBE3A produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects Neuron 74 2012 793 800
-
(2012)
Neuron
, vol.74
, pp. 793-800
-
-
Wallace, M.L.1
Burette, A.C.2
Weinberg, R.J.3
Philpot, B.D.4
-
47
-
-
10044281472
-
Phenotypic variability in Angelman syndrome: Comparison among difference deletion classes and between deletion and UPD subjects
-
M.C. Varela, F. Kok, P.A. Otto, and C.P. Koiffmann Phenotypic variability in Angelman syndrome: Comparison among difference deletion classes and between deletion and UPD subjects Eur J Hum Genet 12 2004 987 992
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 987-992
-
-
Varela, M.C.1
Kok, F.2
Otto, P.A.3
Koiffmann, C.P.4
-
48
-
-
27944452238
-
Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy but has no influence on EEG patterns
-
K.D. Valente, C. Fridman, and M.C. Varela Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy but has no influence on EEG patterns Epilepsy Res 67 2005 163 168
-
(2005)
Epilepsy Res
, vol.67
, pp. 163-168
-
-
Valente, K.D.1
Fridman, C.2
Varela, M.C.3
-
49
-
-
84858294846
-
Analysis of EEG patterns and genotypes in patients with Angelman syndrome
-
M. Vendrame, T. Loddenkemper, and M. Zarowski Analysis of EEG patterns and genotypes in patients with Angelman syndrome Epilepsy Behav 23 2012 261 265
-
(2012)
Epilepsy Behav
, vol.23
, pp. 261-265
-
-
Vendrame, M.1
Loddenkemper, T.2
Zarowski, M.3
-
50
-
-
0028915186
-
Electroclinical diagnosis of Angelman syndrome: A study of 7 cases
-
G.L. Casara, M. Vecchi, and C. Boniver Electroclinical diagnosis of Angelman syndrome: A study of 7 cases Brain Dev 17 1995 64 68
-
(1995)
Brain Dev
, vol.17
, pp. 64-68
-
-
Casara, G.L.1
Vecchi, M.2
Boniver, C.3
-
51
-
-
0041570129
-
Angelman syndrome: Difficulties in EEG pattern recognition and possible misinterpretations
-
K.D. Valente, J.Q. Andrade, and R.M. Grossmann Angelman syndrome: Difficulties in EEG pattern recognition and possible misinterpretations Epilepsia 44 2003 1051 1063
-
(2003)
Epilepsia
, vol.44
, pp. 1051-1063
-
-
Valente, K.D.1
Andrade, J.Q.2
Grossmann, R.M.3
-
52
-
-
23844552132
-
Notched delta, phenotype, and Angelman syndrome
-
C.M. Korff, K.R. Kelley, and D.R. Nordli Notched delta, phenotype, and Angelman syndrome J Clin Neurophysiol 22 2005 238 243
-
(2005)
J Clin Neurophysiol
, vol.22
, pp. 238-243
-
-
Korff, C.M.1
Kelley, K.R.2
Nordli, D.R.3
-
53
-
-
0028868387
-
4p(-) syndrome: A chromosomal disorder associated with a particular EEG pattern
-
V. Sgro, E. Riva, and M.P. Canevini 4p(-) syndrome: A chromosomal disorder associated with a particular EEG pattern Epilepsia 36 1995 1206 1214
-
(1995)
Epilepsia
, vol.36
, pp. 1206-1214
-
-
Sgro, V.1
Riva, E.2
Canevini, M.P.3
-
54
-
-
0036896898
-
A Rett patient with a typical Angelman EEG
-
L.A. Laan, and A.A. Vein A Rett patient with a typical Angelman EEG Epilepsia 43 2002 1590 1592
-
(2002)
Epilepsia
, vol.43
, pp. 1590-1592
-
-
Laan, L.A.1
Vein, A.A.2
-
55
-
-
70350373401
-
Epilepsy and the sleep-wake patterns found in Angelman syndrome
-
K.D. Conant, R.L. Thibert, and E.A. Thiele Epilepsy and the sleep-wake patterns found in Angelman syndrome Epilepsia 50 2009 2497 2500
-
(2009)
Epilepsia
, vol.50
, pp. 2497-2500
-
-
Conant, K.D.1
Thibert, R.L.2
Thiele, E.A.3
-
56
-
-
1642399161
-
Assessment of anticonvulsant effectiveness and safety in patients with Angelman's syndrome using an internet questionnaire
-
D.H. Nolt, J.M. Mott, and W.L. Lopez Assessment of anticonvulsant effectiveness and safety in patients with Angelman's syndrome using an internet questionnaire Am J Health Syst Pharm 60 2003 2583 2587
-
(2003)
Am J Health Syst Pharm
, vol.60
, pp. 2583-2587
-
-
Nolt, D.H.1
Mott, J.M.2
Lopez, W.L.3
-
57
-
-
0034757923
-
Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: The Danish experience
-
J.R. Ostergaard, and T. Balslev Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: The Danish experience Dev Med Child Neurol 43 2001 718 719
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 718-719
-
-
Ostergaard, J.R.1
Balslev, T.2
-
58
-
-
0034646223
-
Topiramate therapy of epilepsy associated with Angelman's syndrome
-
D.N. Franz, T.A. Glauser, C. Tudor, and S. Williams Topiramate therapy of epilepsy associated with Angelman's syndrome Neurology 54 2000 1185 1188
-
(2000)
Neurology
, vol.54
, pp. 1185-1188
-
-
Franz, D.N.1
Glauser, T.A.2
Tudor, C.3
Williams, S.4
-
59
-
-
0035940583
-
High-dose ethosuximide for epilepsy in Angelman syndrome: Implication of GABA(A) receptor subunit
-
C. Sugiura, K. Ogura, M. Ueno, M. Toyoshima, and A. Oka High-dose ethosuximide for epilepsy in Angelman syndrome: Implication of GABA(A) receptor subunit Neurology 57 2001 1518 1519
-
(2001)
Neurology
, vol.57
, pp. 1518-1519
-
-
Sugiura, C.1
Ogura, K.2
Ueno, M.3
Toyoshima, M.4
Oka, A.5
-
60
-
-
33847635274
-
Lamotrigine therapy of epilepsy with Angelman's syndrome
-
M.H. Dion, E.J. Novotny Jr., L. Carmant, P. Cossette, and K. Nguyen Lamotrigine therapy of epilepsy with Angelman's syndrome Epilepsia 48 2007 593 596
-
(2007)
Epilepsia
, vol.48
, pp. 593-596
-
-
Dion, M.H.1
Novotny, Jr.E.J.2
Carmant, L.3
Cossette, P.4
Nguyen, K.5
-
61
-
-
0031738578
-
Adverse effects of vigabatrin in Angelman syndrome
-
C. Kuenzle, M. Steinlin, G. Wohlrab, E. Boltshauser, and B. Schmitt Adverse effects of vigabatrin in Angelman syndrome Epilepsia 39 1998 1213 1215
-
(1998)
Epilepsia
, vol.39
, pp. 1213-1215
-
-
Kuenzle, C.1
Steinlin, M.2
Wohlrab, G.3
Boltshauser, E.4
Schmitt, B.5
-
62
-
-
77649265413
-
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome
-
P. Weber Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome J Child Neurol 25 2010 393 396
-
(2010)
J Child Neurol
, vol.25
, pp. 393-396
-
-
Weber, P.1
-
63
-
-
77957342584
-
Ketogenic diet in a patient with Angelman syndrome
-
A. Evangeliou, V. Doulioglou, K. Haidopoulou, M. Aptouramani, M. Spilioti, and G. Varlamis Ketogenic diet in a patient with Angelman syndrome Pediatr Int 52 2010 831 834
-
(2010)
Pediatr Int
, vol.52
, pp. 831-834
-
-
Evangeliou, A.1
Doulioglou, V.2
Haidopoulou, K.3
Aptouramani, M.4
Spilioti, M.5
Varlamis, G.6
-
64
-
-
84866055955
-
Low glycemic index treatment for seizures in Angelman syndrome
-
R.L. Thibert, H.H. Pfiefer, and A.M. Larson Low glycemic index treatment for seizures in Angelman syndrome Epilepsia 53 2012 1498 1502
-
(2012)
Epilepsia
, vol.53
, pp. 1498-1502
-
-
Thibert, R.L.1
Pfiefer, H.H.2
Larson, A.M.3
-
65
-
-
34547841389
-
Lamotrigine effect on GABA transmission in Angelman syndrome?
-
B. Dan, S.G. Boyd, K. Pelc, and G. Cheron Lamotrigine effect on GABA transmission in Angelman syndrome? Epilepsia 48 2007 1634
-
(2007)
Epilepsia
, vol.48
, pp. 1634
-
-
Dan, B.1
Boyd, S.G.2
Pelc, K.3
Cheron, G.4
-
66
-
-
0027474136
-
Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
-
J. Clayton-Smith Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals Am J Med Genet 46 1993 12 15
-
(1993)
Am J Med Genet
, vol.46
, pp. 12-15
-
-
Clayton-Smith, J.1
-
68
-
-
19144363371
-
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion
-
A. Smith, C. Wiles, and E. Haan Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion J Med Genet 33 1996 107 112
-
(1996)
J Med Genet
, vol.33
, pp. 107-112
-
-
Smith, A.1
Wiles, C.2
Haan, E.3
-
69
-
-
0034086554
-
Problem behaviors associated with 15q- Angelman syndrome
-
D.J. Clarke, and G. Marston Problem behaviors associated with 15q- Angelman syndrome Am J Ment Retard 105 2000 25 31
-
(2000)
Am J Ment Retard
, vol.105
, pp. 25-31
-
-
Clarke, D.J.1
Marston, G.2
-
70
-
-
2342642859
-
Sleep disturbances in Angelman syndrome: A questionnaire study
-
O. Bruni, R. Ferri, G. D'Agostino, S. Miano, M. Roccella, and M. Elia Sleep disturbances in Angelman syndrome: A questionnaire study Brain Dev 26 2004 233 240
-
(2004)
Brain Dev
, vol.26
, pp. 233-240
-
-
Bruni, O.1
Ferri, R.2
D'Agostino, G.3
Miano, S.4
Roccella, M.5
Elia, M.6
-
73
-
-
21344441232
-
Sleep in individuals with Angelman syndrome: Parent perceptions of patterns and problems
-
N.C. Walz, D. Beebe, and K. Byars Sleep in individuals with Angelman syndrome: Parent perceptions of patterns and problems Am J Ment Retard 110 2005 243 252
-
(2005)
Am J Ment Retard
, vol.110
, pp. 243-252
-
-
Walz, N.C.1
Beebe, D.2
Byars, K.3
-
74
-
-
1442348160
-
Sleep polygraphy in Angelman syndrome
-
S. Miano, O. Bruni, V. Leuzzi, E. Maurizio, E. Verrillo, and R. Ferri Sleep polygraphy in Angelman syndrome Clin Neurophysiol 115 2004 938 945
-
(2004)
Clin Neurophysiol
, vol.115
, pp. 938-945
-
-
Miano, S.1
Bruni, O.2
Leuzzi, V.3
Maurizio, E.4
Verrillo, E.5
Ferri, R.6
-
75
-
-
27544450726
-
Sleep breathing and periodic leg movement pattern in Angelman syndrome: A polysomnographic study
-
S. Miano, O. Bruni, M. Elia, S.A. Musumeci, E. Verrillo, and R. Ferri Sleep breathing and periodic leg movement pattern in Angelman syndrome: A polysomnographic study Clin Neurophysiol 116 2005 2685 2692
-
(2005)
Clin Neurophysiol
, vol.116
, pp. 2685-2692
-
-
Miano, S.1
Bruni, O.2
Elia, M.3
Musumeci, S.A.4
Verrillo, E.5
Ferri, R.6
-
76
-
-
84860734013
-
Sleep in children and adolescents with Angelman syndrome: Association with parent sleep and stress
-
S.E. Goldman, T.J. Bichell, K. Surdyka, and B.A. Malow Sleep in children and adolescents with Angelman syndrome: Association with parent sleep and stress J Intellect Disabil Res 56 2012 600 608
-
(2012)
J Intellect Disabil Res
, vol.56
, pp. 600-608
-
-
Goldman, S.E.1
Bichell, T.J.2
Surdyka, K.3
Malow, B.A.4
-
77
-
-
0026903403
-
A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome
-
J.A. Summers, P.S. Lynch, J.C. Harris, J.C. Burke, D.B. Allison, and L. Sandler A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome J Dev Behav Pediatr 13 1992 284 287
-
(1992)
J Dev Behav Pediatr
, vol.13
, pp. 284-287
-
-
Summers, J.A.1
Lynch, P.S.2
Harris, J.C.3
Burke, J.C.4
Allison, D.B.5
Sandler, L.6
-
78
-
-
0032936080
-
Effects of a low dose of melatonin on sleep in children with Angelman syndrome
-
I.V. Zhdanova, R.J. Wurtman, and J. Wagstaff Effects of a low dose of melatonin on sleep in children with Angelman syndrome J Pediatr Endocrinol Metab 12 1999 57 67
-
(1999)
J Pediatr Endocrinol Metab
, vol.12
, pp. 57-67
-
-
Zhdanova, I.V.1
Wurtman, R.J.2
Wagstaff, J.3
-
79
-
-
44249093752
-
Melatonin for chronic insomnia in Angelman syndrome: A randomized placebo-controlled trial
-
W. Braam, R. Didden, M.G. Smits, and L.M. Curfs Melatonin for chronic insomnia in Angelman syndrome: A randomized placebo-controlled trial J Child Neurol 23 2008 649 654
-
(2008)
J Child Neurol
, vol.23
, pp. 649-654
-
-
Braam, W.1
Didden, R.2
Smits, M.G.3
Curfs, L.M.4
-
80
-
-
1842536058
-
Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome
-
E. Beckung, S. Steffenburg, and M. Kyllerman Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome Dev Med Child Neurol 46 2004 239 243
-
(2004)
Dev Med Child Neurol
, vol.46
, pp. 239-243
-
-
Beckung, E.1
Steffenburg, S.2
Kyllerman, M.3
-
81
-
-
79956210664
-
Ophthalmic findings in Angelman syndrome
-
P. Michieletto, P. Bonanni, and S. Pensiero Ophthalmic findings in Angelman syndrome J AAPOS 15 2011 158 161
-
(2011)
J AAPOS
, vol.15
, pp. 158-161
-
-
Michieletto, P.1
Bonanni, P.2
Pensiero, S.3
-
82
-
-
78649476980
-
Adaptive behaviour in Angelman syndrome: Its profile and relationship to age
-
C. Brun Gasca, J.E. Obiols, and A. Bonillo Adaptive behaviour in Angelman syndrome: Its profile and relationship to age J Intellect Disabil Res 54 2010 1024 1029
-
(2010)
J Intellect Disabil Res
, vol.54
, pp. 1024-1029
-
-
Brun Gasca, C.1
Obiols, J.E.2
Bonillo, A.3
-
83
-
-
8544247219
-
Communicative functioning in individuals with Angelman syndrome: A comparative study
-
R. Didden, H. Korzilius, P. Duker, and L. Curfs Communicative functioning in individuals with Angelman syndrome: A comparative study Disabil Rehabil 26 2004 1263 1267
-
(2004)
Disabil Rehabil
, vol.26
, pp. 1263-1267
-
-
Didden, R.1
Korzilius, H.2
Duker, P.3
Curfs, L.4
-
84
-
-
79953854393
-
Abnormal language pathway in children with Angelman syndrome
-
B.J. Wilson, S.K. Sundaram, and A.H. Huq Abnormal language pathway in children with Angelman syndrome Pediatr Neurol 44 2011 350 356
-
(2011)
Pediatr Neurol
, vol.44
, pp. 350-356
-
-
Wilson, B.J.1
Sundaram, S.K.2
Huq, A.H.3
-
85
-
-
80054104943
-
Relationship between aberrant brain connectivity and clinical features in Angelman syndrome: A new method using tract based spatial statistics of DTI color-coded orientation maps
-
V.N. Tiwari, J.W. Jeong, B.J. Wilson, M.E. Behen, H.T. Chugani, and S.K. Sundaram Relationship between aberrant brain connectivity and clinical features in Angelman syndrome: A new method using tract based spatial statistics of DTI color-coded orientation maps Neuroimage 59 2012 349 355
-
(2012)
Neuroimage
, vol.59
, pp. 349-355
-
-
Tiwari, V.N.1
Jeong, J.W.2
Wilson, B.J.3
Behen, M.E.4
Chugani, H.T.5
Sundaram, S.K.6
-
86
-
-
78049395022
-
The behavioral phenotype of the Angelman syndrome
-
C.A. Williams The behavioral phenotype of the Angelman syndrome Am J Med Genet [C] 154C 2010 432 437
-
(2010)
Am J Med Genet [C]
, vol.154 C
, pp. 432-437
-
-
Williams, C.A.1
-
87
-
-
34249030970
-
Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome
-
N.C. Walz Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome J Autism Dev Disord 37 2007 940 947
-
(2007)
J Autism Dev Disord
, vol.37
, pp. 940-947
-
-
Walz, N.C.1
-
88
-
-
18344365184
-
Effects of environmental events on smiling and laughing behavior in Angelman syndrome
-
C. Oliver, L. Demetriades, and S. Hall Effects of environmental events on smiling and laughing behavior in Angelman syndrome Am J Ment Retard 107 2002 194 200
-
(2002)
Am J Ment Retard
, vol.107
, pp. 194-200
-
-
Oliver, C.1
Demetriades, L.2
Hall, S.3
-
89
-
-
79956193952
-
Age related change in social behavior in children with Angelman syndrome
-
D. Adams, K. Horsler, and C. Oliver Age related change in social behavior in children with Angelman syndrome Am J Med Genet [A] 6 2011 1290 1297
-
(2011)
Am J Med Genet [A]
, vol.6
, pp. 1290-1297
-
-
Adams, D.1
Horsler, K.2
Oliver, C.3
-
90
-
-
78751471413
-
The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes
-
K. Arron, C. Oliver, J. Moss, K. Berg, and C. Burbidge The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes J Intellect Disabil Res 55 2011 109 120
-
(2011)
J Intellect Disabil Res
, vol.55
, pp. 109-120
-
-
Arron, K.1
Oliver, C.2
Moss, J.3
Berg, K.4
Burbidge, C.5
-
91
-
-
79952615148
-
Psychological well-being in parents of children with Angelman, Cornelia de Lange and cri du chat syndromes
-
G.M. Griffith, R.P. Hastings, and C. Oliver Psychological well-being in parents of children with Angelman, Cornelia de Lange and cri du chat syndromes J Intellect Disabil Res 55 2011 397 410
-
(2011)
J Intellect Disabil Res
, vol.55
, pp. 397-410
-
-
Griffith, G.M.1
Hastings, R.P.2
Oliver, C.3
-
92
-
-
84855807682
-
Topoisomerase inhibitors unsilence the dormant allele of UBE3A in neurons
-
H.S. Huang, J.A. Allen, and A.M. Mabb Topoisomerase inhibitors unsilence the dormant allele of UBE3A in neurons Nature 481 2011 185 189
-
(2011)
Nature
, vol.481
, pp. 185-189
-
-
Huang, H.S.1
Allen, J.A.2
Mabb, A.M.3
|