JLE

Epileptic Disorders

MENU

Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation Volume 7, numéro 3, September 2005

Angelman, 1965 Angelman H. Puppet children. Dev Med Child Neurol 1965; 7: 681-8.

Clayton-Smith et Laan, 2003 Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40: 87-95.

Fakhoury et Abou-Khalil, 1999 Fakhoury T, Abou-Khalil B. Generalized absence seizures with 10-15 Hz fast discharges. Clin Neurophysiol 1999; 110: 1029-35.

Jiang et al, 1999 Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Genetics of Angelman syndrome. Am J Hum Genet 1999; 65: 1-6.

Laan et al, 1997 Laan LA, Renier WO, Arts WF, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997; 38: 195-9.

Magenis et al, 1987 Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 1987; 28: 829-38.

Mann et Bartolomei, 1999 Mann MR, Bartolomei MS. Towards a molecular understanding of Prader-Willi and Angelman syndromes. Hum Mol Genet 1999; 8: 1867-73.

Minassian et al, 1998 Minassian BA, DeLorey TM, Olsen RW, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998; 43: 485-93.

Moncla et al, 1999 Moncla A, Malzac P, Livet MO, et al. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. J Med Genet 1999; 36: 554-60.

Nadel et al, 1975 Nadel A, Waddell G, Volow M, Escueta AV. Unconsciousness, automatisms, and myoclonic jerks with diffuse rhythmic 9-Hz discharges. Epilepsia 1975; 16: 511-20.