Angelman syndrome: Clinical findings and follow-up data of 14 patients

Turkish Journal of Pediatrics

Volumn 50, Issue 2, 2008, Pages 137-142

  Kara, Bülent ^a   Karaman, Birsen ^b   Özmen, Meral ^b   Rosti, Rasim Özgür ^b   Çalişkan, Mine ^b   Kayserili, Hülya ^b   Başaran, Seher ^b  

^a KOCAELI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Angelman syndrome; Behavioral abnormalities; Dysmorphism; Epilepsy; Mental retardation

Indexed keywords

CLOBAZAM; CLONAZEPAM; LAMOTRIGINE; PHENOBARBITAL; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3A; VALPROIC ACID;

ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE DELETION; HAPPY PUPPET SYNDROME; HUMAN; LIMB MALFORMATION; MALE; MOTOR DYSFUNCTION; SEIZURE; SKIN DISEASE; TURKEY (REPUBLIC); UROGENITAL TRACT MALFORMATION;

ADULT; ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; FEMALE; FOLLOW-UP STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE;

EID: 48649087879     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev 2005; 27: 88-94.
2. Rubin DI, Patterson MC, Westmoreland BF, Mass DW. Angelman's syndrome: clinical and electroencephalographic findings. Electroenceph Clin Neurophysiol 1997; 102: 299-302.
3. Angelman H. Puppet children: a report on three cases. Dev Med Child Neurol 1965; 7: 681-688.
4. Laan L, Haeringen A, Brouwer OF. Angelman syndrome: a review of clinical and genetic aspects. Clin Neurol Neurosurg 1999; 101: 161-170.
5. Buoni S, Grosso S, Pucci L, Fois A. Diagnosis of Angelman syndrome: clinical and EEG criteria. Brain Dev 1999; 21: 296-302.
6. Williams CA, Beaudet AL, Clayton-Smith J, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet 2006; 140: 413-418.
7. Miano S, Bruni O, Leuzzi V, Elia M, Verrillo E, Ferri R. Sleep polygraphy in Angelman syndrome. Clin Neurophysiol 2004; 115: 938-945.
8. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-73.
9. Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997; 15: 74-77.
10. Rougeulle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 1997, 17: 14-15.
11. Jiang Y, Tsai TF, Bressler J, Beaudet AL. Imprinting in Angelman and Prader-Willi syndromes. Curr Op Genet Develop 1998; 8: 334-342.
12. Wang PJ, Hou JW, Sue WC, Lee WT. Electroclinical characteristics of seizures- comparing Prader-Willi syndrome with Angelman syndrome. Brain Dev 2005; 27: 101-107.
13. Hou JW, Wang PJ, Wang TR. Angelman syndrome assessed by neurological and molecular cytogenetic investigations. Pediatr Neurol 1997; 16: 17-22.
14. Ohtsuka Y, Kobayashi K, Yoshinaga H, et al. Relationship between severity of epilepsy and developmental outcome in Angelman syndrome. Brain Dev 2005; 27: 95-100.
15. Laan LA, Vein AA. Angelman syndrome: is there a characteristic EEG? Brain Dev 2005; 27: 80-87.
16. Laan LA, Renier WO, Arts WF, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997; 38: 195-199.
17. Minassian BA, DeLorey TM, Olsen RW, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998; 43: 485-493.