Retraso mental de origen genético | 29 ENE 03

Síndrome de Angelman

Se expone el caso tres pacientes, en los que los estudios genéticos confirmaron la condición de Síndrome de Angelman.
Autor/a: Dr. Palencia R.* Fuente: Boletín de la Sociedad de Pediatría de Asturias, Cantabria, Castilla y León  Bol Pediatr 2002; 42: 40-45
INDICE:  1. Desarrollo | 2. Características | 3. Bibliografía
Bibliografía
1. Angelman H. "Puppet children": a report of three cases. Dev Med Child Neurol 1965; 7: 681-688.

2. McKusick VA. Mendelian inheritance in man. Catalogs of autosomalm dominant, recessive, and X-linked disorders. 11th ed. Baltimore: John Hopkins University Press; 1994.

3. Moreno García M, Barreiro Miranda E. Impronta genómica. An Esp Pediatr 1998; 48: 567-574.

4. Kyllerman M. On the prevalence of Angelman syndrome. Am J Med Genet 1995; 59: 405.

5. Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brondum-Nielsen K. Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Acta Paediatr 2001; 90: 455-459.

6. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-73.

7. Sutcliffe JS, Jiang Y, Galijard RJ, Matsura T, Fang P, Kubota T, Christian SL et al. The E6-Ap ubiquitin-protein ligase (ube3a) gene is localized within a narrowed Angelman syndrome critical region Genome Res 1997; 7: 368-377.

8. Matsura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein gene (UBE3A) in Angelman syndrome. Nat Genet 1997; 15: 74-77.

9. Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC et al. Angelman syndrome resulting from UBE3A mutation in 14 patients from eigth families: clinical manifestations and genetic counselling. J Med Genet 1999; 36: 554-560.

10. Kokkonen H, Leisti J. An unexpected recurrence of Angelman syndrome suggestive of maternal ger-line mosaicism of del(15) (q11q13) in a Finish family. Hum Genet 2000; 107: 83-85.

11. Laan LA, v Haenngen A, Brouwer OF. Angelman syndrome: a review of clinical and genetic aspects. Clin Neurol Neurosurg 1999; 101: 161-170.

12. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 1995; 56: 237-238.

13. Summers JA, Feldman MA. Distintive pattern of behavioral functioning in Angelman syndrome. Am J Ment Retard 1999; 104: 376-384.

14. Campistol J, Sanmartí FX, Poo P, Conil J, Fernández Álvarez E. Generalized nonconvulsive status epilepticus in Angelman syndrome. Libro de Comunicaciones. Congreso Mundial de Neuropediatría. San Francisco: Comunicación 341; 1994.

15. De Lorey TM, Olsen RW. GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man. Epilepsy Res 1999; 36: 123-132.

16. Mohler H. Genetic approaches receptor mutations. J Recept Signal Transduct Res 1997; 17: 13:1-10.

17. Franz DF, Glauser TA, Tudor C, Williams S. Topiramate therapy of epilepsy associated with Angelman´s syndrome. Neurology 2000; 54: 1185-1188.

18. Sugiura C, Ogura K, Ueno M, Toyoshima M, Oka A. High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA (A) receptor subunit. Neurology 2001; 57: 1518-1519.

19. Ruggieri M, McShane MA. Parenteral view of epilepsy i
 

Comentarios

Para ver los comentarios de sus colegas o para expresar su opinión debe ingresar con su cuenta de IntraMed.

CONTENIDOS RELACIONADOS
AAIP RNBD
Términos y condiciones de uso | Política de privacidad | Todos los derechos reservados | Copyright 1997-2024