A "Happy" toddler presenting with sudden, life-threatening seizures

Seminars in Pediatric Neurology

Volumn 17, Issue 1, 2010, Pages 35-38

  Stein, Diane ^a   Chetty, Malini ^a   Rho, Jong M ^b  

^a KAISER PERMANENTE   (United States)

^b ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CLONAZEPAM; ETHOSUXIMIDE; ETIRACETAM; SMALL NUCLEAR RIBONUCLEOPROTEIN; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

ARTICLE; ATONIC SEIZURE; BENIGN CHILDHOOD EPILEPSY; BRAIN INJURY; CASE REPORT; CHILD; CHROMOSOME 15Q; DEVELOPMENTAL DISORDER; DISEASE EXACERBATION; DISEASE SEVERITY; DYSAUTONOMIA; EARLY CHILDHOOD INTERVENTION; ELECTROENCEPHALOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KETOGENIC DIET; LENNOX GASTAUT SYNDROME; METHYLATION; PRESCHOOL CHILD; THERAPY EFFECT; TREATMENT OUTCOME;

ANGELMAN SYNDROME; ANTICONVULSANTS; COMBINED MODALITY THERAPY; FEMALE; HUMANS; INFANT; KETOGENIC DIET; SEIZURES;

EID: 77952488129     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2010.02.002     Document Type: Article

References (26)

1. Lawson-Yuen A., Wu B.L., Lip V., et al. Atypical cases of Angelman syndrome. Am J Med Genet A 2006, 140:2361-2364.
2. Paprocka J., Jamroz E., Szwed-Bialozyt B., et al. Angelman syndrome revisited. Neurologist 2007, 13:305-312.
3. Guerrini R., Carrozzo R., Rinaldi R., et al. Angelman syndrome: Etiology, clinical features, diagnosis, and management of symptoms. Paediatr Drugs 2003, 5:647-661.
4. Angelman H. "Puppet children." A report of 3 cases. Dev Med Child Neurol 1965, 7:681-688.
5. Laan L.A., Vein A.A. Angelman syndrome: Is there a characteristic EEG?. Brain Dev 2005, 27:80-87.
6. Munoz-Cabello B., Rufo-Campos M., Madruga-Garrido M., et al. Epileptic seizures in Angelman syndrome. Rev Neurol 2008, 47:113-118.
7. Pelc K., Boyd S.G., Cheron G., et al. Epilepsy in Angelman syndrome. Seizure 2008, 17:211-217.
8. Lalande M., Calciano M.A. Molecular epigenetics of Angelman syndrome. Cell Mol Life Sci 2007, 64:947-960.
9. Freeman J.M., Veggiotti P., Lanzi G., et al. The ketogenic diet: From molecular mechanisms to clinical effects. Epilepsy Res 2006, 68:145-180.
10. Neal E.G., Chaffe H., Schwartz R.H., et al. The ketogenic diet for the treatment of childhood epilepsy: A randomised controlled trial. Lancet Neurol 2008, 7:500-506.
11. Hartman A.L., Vining E.P. Clinical aspects of the ketogenic diet. Epilepsia 2007, 48:31-42.
12. Caraballo R.H., Cersósimo R.O., Sakr D., et al. Ketogenic diet in patients with myoclonic-astatic epilepsy. Epileptic Disord 2006, 8:151-155.
13. Kossoff E.H., Hedderick E.F., Turner Z., et al. A case-control evaluation of the ketogenic diet versus ACTH for new-onset infantile spasms. Epilepsia 2008, 49(9):1504-1509.
14. Schlanger S., Shinitzky M., Yam D. Diet enriched with omega-3 fatty acids alleviates convulsion symptoms in epilepsy patients. Epilepsia 2002, 43:103-104.
15. Bough K.J., Rho J.M. Anticonvulsant mechanisms of the ketogenic diet. Epilepsia 2007, 48:43-58.
16. Yudkoff M., Daikhin Y., Melø T.M., et al. The ketogenic diet and brain metabolism of amino acids: Relationship to the anticonvulsant effect. Annu Rev Nutr 2007, 27:415-430.
17. Williams C.A. Neurological aspects of the Angelman syndrome. Brain Dev 2005, 27:88-94.
18. Ferguson C., Hardy S.L., Werner D.F., et al. New insight into the role of the beta3 subunit of the GABAA-R in development, behavior, body weight regulation, and anesthesia revealed by conditional gene knockout. BMC Neurosci 2007, 8:85.
19. DeLorey T.M., Olsen R.W. GABA and epileptogenesis: Comparing GABRB3 gene-deficient mice with Angelman syndrome in man. Epilepsy Res 1999, 36:123-132.
20. Handforth A., Delorey T.M., Homanics G.E., et al. Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3-deficient mice, a model of Angelman syndrome. Epilepsia 2005, 46:1860-1870.
21. White H.S., Smith M.D., Wilcox K.S. Mechanisms of action of antiepileptic drugs. Int Rev Neurobiol 2007, 81:85-110.
22. Dion M.H., Novotny E.J., Carmant L., et al. Lamotrigine therapy of epilepsy with Angelman's syndrome. Epilepsia 2007, 48:593-596.
23. Franz D.N., Glauser T.A., Tudor C., et al. Topiramate therapy of epilepsy associated with Angelman's syndrome. Neurology 2000, 54:1185-1188.
24. Kuenzle C., Steinlin M., Wohlrab G., et al. Adverse effects of vigabatrin in Angelman syndrome. Epilepsia 1998, 39:1213-1215.
25. Wang J.F., Sun X., Chen B., et al. Lamotrigine increases gene expression of GABA-A receptor beta3 subunit in primary cultured rat hippocampus cells. Neuropsychopharmacology 2002, 26:415-421.
26. Sankar R., Rho J.M. Do seizures affect the developing brain?: Lessons from the laboratory. J Child Neurol 2007, 22(5 Suppl):21S-29S.