Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome

Marcio Leyser; Patricia Sola Penna; Alexandre Cardozo de Almeida; Marcio Moacyr Vasconcelos; Osvaldo J M Nascimento

doi:10.1007/s10072-013-1586-3

Back

Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome

Journal article

Peer reviewed

Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome

Marcio Leyser, Patricia Sola Penna, Alexandre Cardozo de Almeida, Marcio Moacyr Vasconcelos and Osvaldo J M Nascimento

Neurological sciences, Vol.35(5), pp.701-705

05/2014

DOI: 10.1007/s10072-013-1586-3

PMID: 24395242

View Online

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.

Diagnosis, Differential

Brain - physiopathology

Humans

Angelman Syndrome - diagnosis

Child, Preschool

In Situ Hybridization, Fluorescence

Infant

Male

Seizures - diagnosis

Electroencephalography

Epilepsy - physiopathology

Epilepsy - diagnosis

Seizures - physiopathology

Female

Angelman Syndrome - physiopathology

Child

Infant, Newborn

Delta Rhythm

Theta Rhythm

Details

Title: Subtitle: Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome
Creators: Marcio Leyser - 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, marcioley@hotmail.com
Patricia Sola Penna
Alexandre Cardozo de Almeida
Marcio Moacyr Vasconcelos
Osvaldo J M Nascimento
Resource Type: Journal article
Publication Details: Neurological sciences, Vol.35(5), pp.701-705
DOI: 10.1007/s10072-013-1586-3
PMID: 24395242
ISSN: 1590-1874
eISSN: 1590-3478
Language: English
Date published: 05/2014
Academic Unit: Stead Family Department of Pediatrics; Developmental and Behavioral Pediatrics
Record Identifier: 9984093496102771

Metrics

17 Record Views

19 Times Cited - Web of Science