Angelman syndrome

Handbook of Clinical Neurology

Volumn 111, Issue , 2013, Pages 287-290

  Kyllerman, Mårten ^a  

^a QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876785998     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52891-9.00032-4     Document Type: Chapter

References (11)

1. Boyd S.G., Cross J.H., Dan B. EEG features in Angelman syndrome. Eur J Paediatr Neurol 1997, 1:4. A1.
2. Clayton-Smith J., Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003, 40:87-95.
3. Daily J.L., Nash K., Jinwal U., et al. Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. PLoS One 2011, 6:e27221. [Epub].
4. Gilfillan G.D., Selmer K.K., Roxrud I., et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008, 82:1003-1010.
5. Jacobsen J., King B.H., Leventhal B.L., et al. Molecular screening for proximal 15q abnormalities in a mentally retarded population. J Med Genet 1998, 35:534-538.
6. Korff C.M., Kelley K.R., Nordli D.R. Notched delta, phenotype, and Angelman syndrome. J Clin Neurophysiol 2005, 22:238-243.
7. Kyllerman M. On the prevalence of Angelman syndrome. Am J Med Genet 1995, 59:405.
8. Lossie A.C., Whitney M.M., Amidon D., et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 2001, 38:834-845.
9. Pelc K., Boyd S.F., Cheron G., et al. Epilepsy in Angelman syndrome. Seizure 2008, 17:211-217.
10. van Woerden G.M., Harris K.D., Hojjati M.R., et al. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat Neurosci 2007, 10:280-282.
11. Williams C.A., Beaudet A.L., Clayton-Smith J., et al. Angelman syndrome 2005: updated consensus of diagnostic criteria. Am J Med Genet 2006, 140:413-418.