Angelman syndrome: Correlations between epilepsy phenotypes and genotypes

Berge A. Minassian, Timothy M. DeLorey, Richard W. Olsen, Michel Philippart, Yuri Bronstein, Quanwei Zhang, Renzo Guerrini, Paul Van Ness, Marie O. Livet, Antonio V. Delgado-Escueta

Research output: Contribution to journalArticle

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Abstract

We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogenetic and molecular diagnosis of AS. All patients had 6 to 72 hours of closed-circuit television videotaping and digitized electroencephalographic (EEG) telemetry. Patients from all genotypic classes had characteristic EEGs with diffuse bifrontally dominant high-amplitude 1- to 3-Hz notched or triphasic or polyphasic slow waves, or slow and sharp waves. Class I patients had severe intractable epilepsy, most frequently with atypical absences and myoclonias and less frequently with generalized extensor tonic seizures or flexor spasms. Epileptic spasms were recorded in AS patients as old as 41 years. Aged-matched class II, III, and IV patients had either no epilepsy or drug-responsive mild epilepsy with relatively infrequent atypical absences, myoclonias, or atonic seizures. In conclusion, maternally inherited chromosome 15q11-13 deletions produce severe epilepsy. Loss-of-function UBE3A mutations, uniparental disomy, or methylation imprint abnormalities in AS are associated with relatively mild epilepsy. Involvement of other genes in the chromosome 15q11-13 deletion, such as GABRB3, may explain severe epilepsy in AS.

Original languageEnglish (US)
Pages (from-to)485-493
Number of pages9
JournalAnnals of Neurology
Volume43
Issue number4
DOIs
StatePublished - Apr 1998

Fingerprint

Angelman Syndrome
Epilepsy
Genotype
Phenotype
Chromosomes, Human, Pair 13
Uniparental Disomy
Spasm
Methylation
Seizures
Telemetry
Mutation
Television
Cytogenetics
Genes
Electroencephalography
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Minassian, B. A., DeLorey, T. M., Olsen, R. W., Philippart, M., Bronstein, Y., Zhang, Q., ... Delgado-Escueta, A. V. (1998). Angelman syndrome: Correlations between epilepsy phenotypes and genotypes. Annals of Neurology, 43(4), 485-493. https://doi.org/10.1002/ana.410430412

Angelman syndrome : Correlations between epilepsy phenotypes and genotypes. / Minassian, Berge A.; DeLorey, Timothy M.; Olsen, Richard W.; Philippart, Michel; Bronstein, Yuri; Zhang, Quanwei; Guerrini, Renzo; Van Ness, Paul; Livet, Marie O.; Delgado-Escueta, Antonio V.

In: Annals of Neurology, Vol. 43, No. 4, 04.1998, p. 485-493.

Research output: Contribution to journalArticle

Minassian, BA, DeLorey, TM, Olsen, RW, Philippart, M, Bronstein, Y, Zhang, Q, Guerrini, R, Van Ness, P, Livet, MO & Delgado-Escueta, AV 1998, 'Angelman syndrome: Correlations between epilepsy phenotypes and genotypes', Annals of Neurology, vol. 43, no. 4, pp. 485-493. https://doi.org/10.1002/ana.410430412
Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q et al. Angelman syndrome: Correlations between epilepsy phenotypes and genotypes. Annals of Neurology. 1998 Apr;43(4):485-493. https://doi.org/10.1002/ana.410430412
Minassian, Berge A. ; DeLorey, Timothy M. ; Olsen, Richard W. ; Philippart, Michel ; Bronstein, Yuri ; Zhang, Quanwei ; Guerrini, Renzo ; Van Ness, Paul ; Livet, Marie O. ; Delgado-Escueta, Antonio V. / Angelman syndrome : Correlations between epilepsy phenotypes and genotypes. In: Annals of Neurology. 1998 ; Vol. 43, No. 4. pp. 485-493.
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