levetiracetam and Angelman-Syndrome

Angelman's syndrome (AS) is accompanied by specific changes in the EEG and genetically determined epilepsy. To analyze the neurological status, changes on EEG, MRI, the course of epilepsy in patients with Angelman syndrome (observed at the Svt. uca`s Institute of Child Neurology and Epilepsy).. 47 patients with a genetically verified diagnosis of AS (aged 2 to 20 years, mean age 8.5 years; 26 boys and 21 girls) were included. The diagnosis was established by DNA methylation in 32 patients and sequencing in 15 patients (12 cases of deletion and 3 cases of nucleotide substitution were identified).. Of the 47 patients, 45 have epilepsy. The seizures start up to 5 years of age, inclusive. For treatment, patients received various antiepileptic drugs. Long-term follow-up of epilepsy was followed in 40 of 47 patients, and 36 of 40 achieved drug remission. After several years without seizures, 24 out of 30 had a relapse, which was quickly stopped in 23 out of 30 patients. The severity of the disease is influenced by the nature of the mutation and the length of the deletion, as well as persistent epileptic seizures. The most effective AEDs in patients in our study are: in monotherapy, valproic acid, levetiraceiam, ethosuximide; in duotherapy, valproic acid in combination with levetiracetam or ethosuximide, less often levetiracetam with ethosuximide.. Early genetic diagnosis of AS facilitates the selection of AET.. Изучение неврологического статуса, клинико-ЭЭГ-картины, нейровизуализации и течения эпилепсии у детей с генетически подтвержденным синдромом Ангельмана.. Проанализированы данные 47 пациентов (26 мальчиков и 21 девочка в возрасте от 2 до 20 лет, средний возраст 8,5 года) с генетически верифицированным диагнозом «синдром Ангельмана». Диагноз установлен методом метилирования ДНК у 32 пациентов и секвенирования у 15 (при этом выявлено 12 случаев делеции и 3 — нуклеотидной замены).. У 45 из 47 пациентов отмечается эпилепсия. Приступы дебютировали до 5 лет включительно. Для лечения пациенты получали различные антиэпилептические препараты. Длительный катамнез по эпилепсии удалось проследить у 40 из 47 пациентов, у 36 из 40 — достигнута медикаментозная ремиссия. Через несколько лет ремиссии у 24 из 36 пациентов произошел рецидив, который удалось быстро купировать у 23 пациентов. На степень тяжести заболевания влияют характер мутации и протяженность делеции, а также персистирующие эпилептические приступы. Максимально эффективными антиэпилептическими препаратами у пациентов в исследовании оказались вальпроевая кислота, леветирацетам, этосуксимид в монотерапии; вальпроевая кислота в сочетании с леветирацетамом или этосуксимидом, реже леветирацетам с этосуксимидом в дуотерапии.. Ранняя генетическая диагностика синдрома Ангельмана облегчает подбор противоэпилептической терапии.

Topics: Angelman Syndrome; Anticonvulsants; Child; Electroencephalography; Epilepsy; Ethosuximide; Female; Humans; Levetiracetam; Male; Seizures; Valproic Acid

Children with Angelman syndrome have an increased risk of developing a nonconvulsive status epilepticus. Although the urgency to treat nonconvulsive status epilepticus depends on the underlying illness, most clinicians and authors agree that treatment should be focused to rapidly terminate this condition. Until now, the use of levetiracetam to treat nonconvulsive status epilepticus in children is based only on some case reports. Our case further supports this treatment regime for a subgroup of children with a special risk of nonconvulsive status epilepticus and developmental delay.

Topics: Angelman Syndrome; Anticonvulsants; Brain; Child; Electroencephalography; Humans; Levetiracetam; Male; Piracetam; Status Epilepticus; Treatment Outcome

Angelman syndrome (AS) commonly presents with epilepsy (>80%). The goal of this study was to examine the natural history and various treatments of epilepsy in AS in a large population.. A detailed electronic survey containing comprehensive questions regarding epilepsy in AS was conducted through the Angelman Syndrome Foundation.. There were responses from 461 family members of individuals with AS, of whom 86% had epilepsy (60% with multiple seizure types), the most common being atonic, generalized tonic-clonic, absence, and complex partial. Partial-onset seizures only were reported in 11% of those with epilepsy. Epilepsy was most common among those with maternal deletions and unknown subtypes, with catastrophic epilepsies present in only these two subtypes. These epilepsies were refractory to medication, with only 15% responding to the first antiepileptic drug (AED). The most commonly prescribed AED were valproic acid and clonazepam, but lamotrigine and levetiracetam appeared to have similar efficacy and tolerability.. This is the largest study to date assessing epilepsy in AS. Although epilepsy in AS is considered a generalized epilepsy, there was a high prevalence of partial seizures. There are few previous data regarding the use of newer AED in AS, and the results of this study suggest that these newer agents, specifically levetiracetam and lamotrigine, may have efficacy similar to that of valproic acid and clonazepam, and that they appear to have similar or better side-effect profiles. Nonpharmacologic therapies such as dietary therapy and vagus nerve stimulation (VNS) also suggest favorable efficacy and tolerability, although further studies are needed.

Topics: Adolescent; Adult; Angelman Syndrome; Anticonvulsants; Child; Child, Preschool; Clonazepam; Comorbidity; Drug Administration Schedule; Drug Resistance; Epilepsy; Epilepsy, Generalized; Female; Humans; Infant; Lamotrigine; Levetiracetam; Male; Middle Aged; Piracetam; Surveys and Questionnaires; Syndrome; Treatment Outcome; Triazines; Vagus Nerve Stimulation; Valproic Acid