Neurology, Neuropsychiatry, Psychosomatics

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Vol 6, No 1S (2014): Special issue "Epilepsy"


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The paper focuses on problems of genetic examination of children with epilepsy. The major types of monogenic epilepsies in children are described; clinical and research justification of molecular-genetic examination in these patients is given. Priority in molecular diagnosis should be given to epileptic syndromes with clear phenotype. In individuals with Dravet syndrome, detection of a typical mutation allows one to clarify the diagnosis and provides important data concerning prognosis and treatment strategy. If the phenotype is less clear, diagnostic panels need to be used to determine the most frequent mutations that cause severe epilepsy (epileptic encephalopathies). Thus, genetic studies provide new insights into epileptic encephalopathies with prolonged spike-wave activity during sleep: the GRIN2A gene encoding the alpha subunit of NMDA receptors was muted in 17.6% of children with this syndrome. The need for supplementing the examination algorithm of a child with severe epilepsy with comparative genomic hybridization is emphasized. In practical terms, detection of an epilepsy-causing muta- tion allows one to refuse further expensive diagnostic procedures, to predict the disease course more accurately (in some cases), to optimize the therapeutic strategy, and to determine the prognosis of further reproductive potential in some cases. Scientifically, studies into the sequelae of the known mutations (and their effect on child's brain development) allow one to refine the key processes of epileptogenesis. These data may be used to design new therapy methods (the so-called target therapy for epilepsy) in future. 


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Benign focal epileptiform discharge of childhood (BFEDC) is an age-dependent pattern determined in electroencephalograms (EEGs), which is associated with idiopathic benign focal epilepsy (BFE). Studies of BFE revealed symptomatic phenocopies in patients with cerebral struc- tural abnormalities in such conditions as infantile cerebral palsy and malformations. Some arguments against the «benign» nature of BFEDC are presented, since BFEDC may impair various cognitive functions and behavior (e.g., cause epileptic encephalophathies). Objective. To determine the clinical and neurophysiological features of epileptic syndromes associated with prolonged epileptiform activity during sleep in children and adolescents, as well as approaches to rational therapy.
Patients and Methods. A total of 1862 children aged 2–18 admitted to the specialized Department of Psychoneurology of the Voronezh Regional Children Clinical Hospital No 1 in 2004–2007, who had epileptic seizures and non-epileptic neurological disorders, were exam- ined. The children underwent assessment of the neurological status, neuropsychological assessment, and video-EEG monitoring. The spike- wave index (SWI) was calculated and magnetic resonance imaging (MRI) of the brain was performed to register the epileptiform activity during sleep.
Results and Discussion. It was demonstrated that when ISW of BFEDC patterns is >30%, evolution into epileptic encephalopathy was observed in 66% of patients (including epilepsy with electrical status epilepticus in sleep in 49% of patients and cognitive epileptiform disinte- gration in 17% of patients). The results prove the justification of prescribing antiepileptic drugs to patients with SWI ≥30% even if they have no epileptic seizures. Duo-therapy with valproate and ethosuximide or levetiracetam is most the effective therapy. Further prospective studies for children with BFEDC will give new insight into this area. 

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We analyzed 42 pregnancy, delivery, and postpartum period records in women with juvenile myoclonic epilepsy (JME). In most cases, the course of JME was favorable during pregnancy; so administration of subtherapeutic dosages of AEDs in the first and second trimesters of pregnancy can be recommended. Epilepsy decompensation occurred in the postpartum period in 40.5% of cases. Because of a significant risk of epilepsy aggravation during the postpartum period, it is reasonable to increase the dosage of AEDs up to the therapeutic one by the time of expected delivery. We recommend administering AEDs at this dosage for at least three months after the delivery.
Neither birth weight or height deviations, nor abnormal Apgar score, nor congenital disorders were revealed in newborns. 

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Objective. To determine tolerability and effectiveness of continuous vagus nerve stimulation (VNS) in patients with drug resistance epilepsy (DRE). Patients and Methods. A VNS system was implanted to 9 adults (aged 14–38) with DRE. The duration of catamnesis was 8–12 months. Results. During the first 2–3 months after the VNS system had been implanted, seizure frequency reduced by over 50% in half of the patients with DRE. The remaining patients showed a similar positive effect 8–12 months after the VNS parameters had been adjusted. A decrease in seizure frequency, duration and severity, as well as shortening of the post-seizure period were observed in 12.5% of patients. Negative side effects, such as dysphonia and throat discomfort, were found in 12.5% of patients. These undesirable effects were eliminated by adjusting magnetic stim- ulation parameters. Significant positive EEG dynamics, such as regression of paroxysmal epileptic activity, were obtained in 62.5% the cases. Conclusions. VNS therapy is a safe and effective treatment method for reducing the frequency and severity of seizures in patients with DRE. 

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Objective. To optimize the therapeutic and preventive care for epilepsy patients based on the results of examination and therapy correction performed by an epileptologist.
Patients and Methods. Results of clinico-epidemiological examination of 587 adult patients with epilepsy (320 males and 267 females) are presented. The effectiveness of the antiepileptic therapy before and after it had been optimized by an epileptologist was analyzed. Results. The results demonstrated that optimization of antiepileptic drug therapy according to the recommendations of the International League Against Epilepsy (ILAE) allowed 91.87% of patients to achieve positive result: the termination of seizures was observed in 66.61% of cases; a decrease in seizure frequency by over 50% was observed in 25.26% of cases. A total of 6.26% of patients showed clinical improve- ment (seizure frequency was reduced by less than 50%). The therapy turned out to be inefficient in 1.87% of patients. 


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A clinical analysis of two cases of refractory status epilepticus of generalized convulsive seizures is presented. The reasons behind the ineffec- tiveness of the pre-hospital emergency services are discussed. The features of clinical care of female patients according to the modern treat- ment standards and the possibilities for using intravenous forms of antiepileptic drugs in combination with general anesthetic drugs are ana- lyzed. The tactics of further treatment are discussed. 


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Launching four intravenous antiepileptic drugs: valproate (Depakene and Convulex), lacosamide (Vimpat), and levetiracetam (Keppra) – into the Russian market has significantly broadened the possibilities of rendering care to patients in seizure emergency situations. The chemi- cal structure, mechanisms of action, indications/contraindications, clinical effectiveness and tolerability, advantages/disadvantages, and adverse events of using these drugs in urgent and elective neurology are discussed. 


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Fetal congenital malformations are among the most dangerous complications of pregnancy in women with epilepsy taking antiepileptic drugs. Valproic acid and phenobarbital have the greatest risk of teratogenic effects. Insights into the current mechanisms of teratogenic effect of antiepileptic drugs, pharmacogenetic features of the metabolism of valproates and hereditary abnormalities in the folate cycle enables prevention of fetal congenital malformations. 

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This article presents a literature review on teratogenic effects of carbamazepine and a clinical case of spina bifida in a child whose mother had epilepsy and was receiving carbamazepine during pregnancy. 

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Water-electrolyte homeostasis disorders (WEHD) are considered in two aspects: as a possible factor for inducing acute symptomatic seizures in WEHD patients and as a factor of disorder destabilizing in epilepsy patients. Etiological systematization of WEHD is presented. The fea- tures of brain injury, neurological disorders, and long-term prognosis in patients with acute hyponatremia are discussed. The diagnosis and therapy problems in patients with water-electrolyte homeostasis disorders are analyzed; a clinical case is reported. 


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Review of the monograph

Dmitrenko D.V., Shnaider N.A., Egorova A.T., et al. Epilepsiya i beremennost’ (Epilepsy and Pregnancy). Moscow: Medika, 2014. Illustrated. 

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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)