Cordero-Molina MF, Escribano-Röber G, Carvajal-Game M, Gaete R

Language: Spanish
References: 12
Page: 3-11
PDF size: 312.75 Kb.

ABSTRACT

Introduction: Angelman Syndrome (AS) is characterized by mental retardation, language impairment, facial dysmorphia and a characteristic behavioral phenotype. These clinical diagnostic criteria were defined by consensus since 1995. The prevalence of AS among children and young adults is 1/10,000 to 40,000 depending on the series. The most common age of diagnosis is between 2 and 5 years old, when the behavioral characteristics and traits are more evident. The causes of AS are mutations of UBE3A gene in chromosome 15, a deletion of the maternal chromosome in the region 15q12, uniparental disomy and imprinting defects center.
Objective: To determine the EEG characteristics of patients with AS; we want to correlate the most frequent reason for consultation on his topic and also determine the age of suspected diagnosis of SA and relate the types of epilepsy and EEG features.
Methods: This is a descriptive, retrospective study analyzing medical records of AS cases diagnosed and treated at the Neurology and Genetics Department at the Children’s Hospital Dr. Exequiel González Cortés from January 2001 to May 2013.
Results: The evolution of EEG patterns varies over time in patients with AS; the EEG pattern of long trains 2-3 Hz is the most common, with amplitude-phase morphology of 200 to 500 µV, greater in frontal regions, with acute multifocal spike waves in groups.
Conclusions: As described in other series, in this work it was observed a large percentage of patients initially presenting EEG with hypsarrhythmia activity that eventually evolve into defined patterns of AS.

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