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Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome

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Abstract

Angelman syndrome is a neurogenetic disorder that severely affects global neurodevelopment due to modifications in the structure or functioning of UBE3A gene. Its prevalence ranges from 1:10,000 to 1:40,000. There are four main genetic types of AS transmission. A maternal deletion in 15q11.2-q13 is the most common type. There are three well-established electroencephalogram (EEG) patterns used as an ancillary tool for AS diagnosis. The main objectives are to scrutinize the EEG patterns in Angelman syndrome, their correlation to different types of seizures and to review the role of the EEG as an ancillary screening tool in the diagnosis of clinically suspected patients. Forty-three patients’ charts and their previously recorded EEGs were reviewed. A set of 34 patients with deletion type, paternal uniparental disomy type and imprint defect type AS were enrolled. AS diagnosis was confirmed either by fluorescent in situ hybridization test or Methylation Specific–Multiplex Ligation Probe Amplification test. Sequencing of UBE3A was not available. Frequencies and Chi-square tests were used for statistic analysis. Pattern I type EEG was observed in 22 (64.7 %) individuals. Pattern II accounted for 6 (17.6 %); Pattern III was evident in 11 (32.4 %). The three distinguished EEG patterns, more frequently Pattern I, when observed in the appropriate clinical setting, may heighten the index of suspicion for selecting patients who will need a molecular biology test to confirm the diagnosis of AS.

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Abbreviations

AS:

Angelman syndrome

EEG:

Electroencephalogram

FISH:

Fluorescent in situ hybridization test

NIH:

National Institutes of Health

SNRPN:

Small nucleic ribonucleoprotein N gene

UBE3A:

Ubiquitin-protein ligase

UPD:

Uniparental disomy

V-EEG:

Video electroencephalogram

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Acknowledgments

We would like to thank Mr. Marcelo Barbosa Anzanello for the help with the statistical analysis.

Conflict of interest

The authors have no conflict of interest relevant to this article. These studies were independent and not sponsored by any funding institution.

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Authors and Affiliations

  1. The SARAH Network of Neurorehabilitation Hospitals, SARAH International Center for Neurorehabilitation and Neuroscience, Avenida Abelardo Bueno, nº 1500, Rio de Janeiro, RJ, 22775-040, Brazil

    Marcio Leyser, Patricia Sola Penna & Alexandre Cardozo de Almeida

  2. Antonio Pedro University Hospital, Fluminense Federal University, Niterói, Brazil

    Marcio Moacyr Vasconcelos & Osvaldo J. M. Nascimento

Authors
  1. Marcio Leyser
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  2. Patricia Sola Penna
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  3. Alexandre Cardozo de Almeida
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  4. Marcio Moacyr Vasconcelos
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  5. Osvaldo J. M. Nascimento
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Correspondence to Marcio Leyser.

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Leyser, M., Penna, P.S., de Almeida, A.C. et al. Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome. Neurol Sci 35, 701–705 (2014). https://doi.org/10.1007/s10072-013-1586-3

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  • DOI: https://doi.org/10.1007/s10072-013-1586-3

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