Review Article
Volume 13 Issue 4 - 2021
Epilepsy in 47 Angelman Syndrome Patients: A Follow-Up Study
Maria Yurjevna Bobylova*, K Yu Mukhin, GV Kuzmich, OA Pylayeva and L Yu Glukhova
Svt Luka`s Institute of Child Neurology and Epilepsy LLC, Troitsk, Moscow, Russia
*Corresponding Author: Maria Yurjevna Bobylova, Svt Luka`s Institute of Child Neurology and Epilepsy LLC, Troitsk, Moscow, Russia.
Received: March 04, 2021; Published: March 31, 2021




Abstract

In Svt. Luka`s Institute of Child Neurology and Epilepsy (Svt. Luka`s ICNE), we follow 47 patients (26 male and 21 female patients) with a genetically confirmed Angelman syndrome (AS) aged 2-20 (the mean age of patients was 8.5). Angelman syndrome was diagnosed by DNA methylation analysis in 32 patients and DNA sequencing technologies in 15 patients (12 deletions and 3 nucleotide substitutions). 92 video EEG monitoring in 34 out of 47 patients were available for our analysis. The wakefulness EEG had the following characteristics: alpha rhythm (13 patients); Theta pattern (24 patients); High amplitude delta waves in the frontal regions -Delta F pattern (23 patients); lateralized or generalized Delta-theta activity in the posterior temporo-parieto-occipital areas - Delta-theta-OPT pattern (26 patients), Periodic posterior rhythm slowing (24 patients), anterior rhythm slowing (16 patients), generalized slowing (25 patients). Epileptiform activity during wakefulness was characterized by presence of low-amplitude spikes during slow waves - Notched pattern (25 patients); focal discharges without slowing (12 patients). Sleep EEG revealed 1) Hypnagogic hypersynchronous activity (9 patients), 2) Sleep spindles (18 patients); 3) the absence of sleep spindles with high delta wave activity (16 patients). Epileptiform activity during wakefulness was characterized by 1) low-amplitude spikes during delta waves (notched slow waves); 2) focal epileptiform activity without slowing; 3) benign focal epileptiform discharges of childhood (BFEDC) in 15% of children at the age of 3-7 years; 4) Hypsarrhythmia (3 patients during sleep). Of the 47 patients, 45 had epilepsy with debut of seizures up to 5 years of age. Long-term follow-up data was available for 40 of 47 patients. Drug-induced remission was observed in 36 patients. After a few years of remission, 24 of 30 had a relapse. The severity of the disease is influenced by the type of the mutation and the length of the deletion, as well as persistent epileptic seizures. the most effective anticonvulsants for AS patients in this study were valproic acid, levetiracetam, and ethosuximide as monotherapy; valproic acid in combination with levetiracetam or ethosuximide. Early genetic diagnosis of AS facilitates the selection of anticonvulsants.

 

Keywords: Angelman Syndrome; UBE3A Gene; Epilepsy; Video-EEG Monitoring; Notched Delta Pattern; Delta-Theta-OPT Pattern; Benign Focal Epileptiform Discharges of Childhood (BFEDC)

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Citation: Maria Yurjevna Bobylova., et al. “Epilepsy in 47 Angelman Syndrome Patients: A Follow-Up Study”. EC Neurology 13.4 (2021): 75-85.

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