<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0001_s_001"><h3>Introduction</h3><p>Very few epilepsy phenotypes have been associated with causative genes; nevertheless, it is becoming possible, for some epilepsy phenotypes, to predict the most efficacious anti-epileptic drugs for patients based on their genetic makeup. The development of individualized medicine based on genetic information and the genetic diagnosis of epilepsy are expected to greatly improve the diagnosis and treatment of epilepsy. Here, we developed a DNA array (resequencing array) for the genetic diagnosis of epilepsies in which 14 epilepsy – related genes (<italic>SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A</italic>, and <italic>CACNA1H</italic>) have been mounted.</p></sec><sec id="j_joepi-2015-0001_s_002"><h3>Aim</h3><p>The aim of the present study is to evaluate the performance of our custom array in detecting the <italic>SCN1A</italic> mutations in patients with severe myoclonic epilepsy in infancy.</p></sec><sec id="j_joepi-2015-0001_s_003"><h3>Material and methods</h3><p>We compared mutation data generated by DNA array sequencing of DNA samples from patients with severe myoclonic epilepsy in infancy to the data generated by capillary sequencing.</p></sec><sec id="j_joepi-2015-0001_s_004"><h3>Results</h3><p>Heterozygosity was detected in 44 of 48 patients (92%). We successfully identified epilepsy mutations, and the results of DNA array analyses were largely consistent with the results of capillary sequencing analysis.</p></sec><sec id="j_joepi-2015-0001_s_005"><h3>Conclusion</h3><p>These findings indicate that this DNA array is likely to be a useful tool in clinical settings.</p></sec></abstract>

Detection of <italic>SCN1A</italic> mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0002_s_001"><h3>Introduction</h3><p>The current knowledge of significance of some neurobiological and clinical variables in the prediction of remission length and seizures reduction in partial epilepsies remains sparse and even controversial.</p></sec><sec id="j_joepi-2015-0002_s_002"><h3>Aim</h3><p>The current study has been carried out in order to evaluate the possible relationship between epilepsy forms, gender, focus lateralization and handedness with therapeutic remission and seizures reduction during antiepileptic treatment in persons with partial forms of epilepsy.</p></sec><sec id="j_joepi-2015-0002_s_003"><h3>Material and methods</h3><p>One hundred and eight patients were studied. Handedness was evaluated using the Annett’s scale. Focus lateralization was detected by use of the EEG. Of the patients studied temporal lobe epilepsy (TLE) was diagnosed in 61 cases and frontal lobe epilepsy (FLE) in 47 cases. There were 44 men and 64 women, of which 83 were right-handed and 25 were left-handed. A left-sided focus was detected in 59 persons whilst a right-sided focus was noted in 49 persons. MANOVA was used for the analysis of interrelationship between four nominal fixed factors (epilepsy forms, gender, handedness, and focus laterality) and dependent variables of therapeutic remission and percentage seizures reduction.</p></sec><sec id="j_joepi-2015-0002_s_004"><h3>Results</h3><p>A favorable prognostic significance of FLE vs TLE was observed. In contrast gender, handedness, and focus laterality had no influence on the dependent variables when analyzed separately. However, when two, three and four independent variables were combined an influence on the dependent variables was observed; and some combinations may be used for prediction purposes of therapeutic remission and percentage in seizure reduction. The FLE in the men with the right-handedness and the left focus (FLE·M·Rh·LF) resulted in the maximal length of therapeutic remission and maximal seizures reduction, while the other combinations have resulted in less favorable treatment results. The TLE·M·Rh·RF and TLE·M·Lh·LF were the worst combinations for the remission length and TLE · Fe · Lh · LF for the seizures reduction.</p></sec><sec id="j_joepi-2015-0002_s_005"><h3>Conclusions</h3><p>The current study revealed the significance of combinations of some neurobiological and clinical variables in prediction of therapeutic remission and percent of seizures reduction irrespective of used antiepileptic drugs. These results may be used so as to aid patient selection before drug treatment in order to form the homogenous groups of persons.</p></sec></abstract>

Neurobiological and clinical predictors of remission and antiepileptic treatment efficacy in partial epilepsies

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0001_s_001"><h3>Introduction</h3><p>Déjà vu (DV, from French “already seen”) is an aberration of psychic activity associated with transitory erroneous perception of novel circumstances, objects, or people as already known.</p></sec><sec id="j_joepi-2015-0001_s_002"><h3>Aim</h3><p>Investigation of clinical and diagnostic significance of derealization episodes in epilepsy.</p></sec><sec id="j_joepi-2015-0001_s_003"><h3>Materials and methods</h3><p>The study involved 166 individuals (mean age 25.2 ± 9.2 yrs; 63.2% women). DV episodes were characterized and compared in groups of healthy volunteers (n = 139) and epilepsy patients (n = 27). The subjects participated in a survey concerning déjà vu characteristics and in a long-time ambulatory EEG monitoring (12-16 h).</p></sec><sec id="j_joepi-2015-0001_s_004"><h3>Results</h3><p>In epilepsy patients, DV episodes were equally frequent in cryptogenic and symptomatic focal epilepsy, occurred in combination with nearly all types of seizures, and could occur both as an aura and as an individual seizure. The major clinical features distinguishing DV in healthy subjects from DV in epilepsy patients were the frequency and emotional perception of DV episodes, and preceding fear. A critical diagnostic marker is the dynamics of DV characteristics: an increase in frequency and duration, negative emotional background. In EEG, DV episodes in patients began with polyspike activity in the right temporal lobe and, in some cases, ended with slow-wave theta-delta activity in the right hemisphere.</p></sec><sec id="j_joepi-2015-0001_s_005"><h3>Conclusion</h3><p>Our combined clinical and electrophysiological investigation identified two separate DV types: epileptic Déjà Vu characteristic of epilepsy patients and equivalent to an epileptic seizure, and non-epileptic Déjà Vu occurring in healthy individuals, which is basically a psychological phenomenon.</p></sec></abstract>

Medical Department of Belgorod State University

EEG characteristics of déjà vu phenomenon

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0004_s_001"><h3>Introduction</h3><p>SUDEP is not so rare event, unexplained, underused and underestimated. Its awareness has recently contributed to a number of initiatives for global action and clinical and experimental research.</p></sec><sec id="j_joepi-2015-0004_s_002"><h3>Aim</h3><p>To undertake a literature review so as to update various aspects of SUDEP: pathophysiological mechanisms, potential markers for autonomic dysfunctions and risk factors, AEDs effects, non-AED management options, forensic/autopsy, patient-physician communications in patients with SUDEP risk.</p></sec><sec id="j_joepi-2015-0004_s_003"><h3>Method</h3><p>A literature review, up to Nov. 2012, was conducted using PubMed-Medline for SUDEP, no indexed citation and relevant papers.</p></sec><sec id="j_joepi-2015-0004_s_004"><h3>Review</h3><p>Interactions between the central and peripheral origin of cardiac and respiratory dysfunctions, triggered by epileptiform discharges in the cortical representation of the autonomic functions, may lead to SUDEP during simple partial autonomic seizures - even without other components of a seizure. A number of potential biomarkers of autonomic dysfunctions and risk of SUDEP are identified and proposed to use in its prevention: heart rate variability, long and short QT, arrhythmias, asystole, oxygen desaturation, apneas, hypoxia, postictal EEG suppression, circadian seizure pattern.</p></sec><sec id="j_joepi-2015-0004_s_005"><h3>Conclusions</h3><p>Risk factors for SUDEP, AEDs effects, non-AED management of preventive options and forensic autopsy in diagnosis of SUDEP are discussed. Periictal long term video EEG, ECG and oxygen saturation monitoring may contribute to better understanding of SUDEP mechanisms and eventually to its prevention. SUDEP occurs as fatal coexistence of several predisposing risk factors. Diagnosis of SUDEP is underestimated and underused. In patient with high risk factors for SUDEP, in particular, with AED noncompliance, prognosis of epilepsy should be discussed with patient.</p></sec></abstract>

Sudden Unexpected Death In Epilepsy (SUDEP) – an update

AHEAD OF PRINT

Volume 32 (2024): Issue 1 (May 2024)

Volume 31 (2023): Issue 1 (November 2023)

Volume 29 (2021): Issue 1 (July 2021)

Volume 28 (2020): Issue 1 (December 2020)

Volume 27 (2019): Issue 1 (February 2019)

Volume 26 (2018): Issue 1-2 (June 2018)

Volume 25 (2017): Issue 1-2 (December 2017)

Volume 24 (2016): Issue 2 (December 2016)

Volume 24 (2016): Issue 1 (June 2016)

Volume 23 (2015): Issue 2 (December 2015)

Volume 23 (2015): Issue 1 (June 2015)

Volume 22 (2014): Issue 2 (December 2014)

Volume 22 (2014): Issue 1 (June 2014)

Volume 21 (2013): Issue 2 (December 2013)

Volume 21 (2013): Issue 1 (June 2013)

Journal of Epileptology

 The Journal of Epileptology – published since 2013 - is an international, open access peer reviewed scientific journal that publishes articles of clinical and experimental epilepsy.   The following categories of epilepsy related topics are accepted for publications: medical hypotheses, basic research, clinical research, reviews and special reports, product investigation, diagnostic and medical technology, case reports, letters to Editor, reports from international and local activities.   The aim of the journal is to widen the international community of readers, research and clinicians interested in various aspects of epilepsy and disseminate interdisciplinary knowledge in all fields related to epilepsy.   The Journal of Epileptology is owned by the Foundation of Epileptology which was established in 1993 by Professor Jerzy Majkowski. The Foundation of Epileptology is the first non-governmental organization in Poland whose priority is to improve the quality of life of persons with epilepsy by improving the diagnostic and therapeutic skills of doctors and by shaping a positive attitude to epilepsy among the public. The Foundation, led by this idea, brings together physicians, psychologists, scientists and academics, social activists and other people who wish to contribute to the development of epileptology and thus provide medical assistance to persons with epilepsy.     About Society   The Foundation of Epileptology was established in 1993 by Professor Jerzy Majkowski who also founded the Department of Neurology and Epileptology at the Medical Centre for Postgraduate Education (CMKP) in 1988. The Foundation of Epileptology is the first non-governmental organisation in Poland to have as its priority the improvement of quality of life of epileptic patients by means of furthering doctors' diagnostic and therapeutic mastery and developing a positive approach to epilepsy among the general public. The Foundation, led by this idea, attracts physicians, psychologists, researchers and academics, social activists and other persons who wish to contribute to the development of epileptology and thereby bring medical assistance to people suffering from epilepsy. The Foundation of Epileptology was registered in the Foundation Register of the District Court for the Municipality of Warsaw on 16 March 1993 and thereby acquired legal status. The Founder appointed the Foundation Council and the Foundation Executive Committee.   The Foundation of Epileptology co-operates with the Polish Society of Epileptology, the Warsaw-based Society for Victims of Epilepsy and their Friends "Calm Head" (Spokojna Głowa) and other domestic and foreign organisations with similar goals. The Foundation of Epileptology is a member of the European Epilepsy Academy (EUREPA) and Professor Majkowski is co-organiser and member of the first Executive Committee and is now a member of the EUREPA Research Advisory Committee. The Executive Committee of the Polish Society of Epileptology shares its headquarters with the Epilepsy Foundationv   Archiving   The archiving of issues published from 2013 to 2017 will occur, and thus all issues published in the current form of the Journal will become available on-line. However, the issues published quarterly under the journal’s earlier name of Epileptologia during 1993 to 2012 will be successively attached and published on journal’s website www.journal-epileptology.com.   Sciendo archives the contents of this journal in Portico - digital long-term preservation service of scholarly books, journals and collections.   Plagiarism Policy   The editorial board is participating in a growing community of Similarity Check System's users in order to ensure that the content published is original and trustworthy. Similarity Check is a medium that allows for comprehensive manuscripts screening, aimed to eliminate plagiarism and provide a high standard and quality peer-review process. 

Journal of Epileptology

Volume 21 (2013): Issue 1 (June 2013)

Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

Neurobiological and clinical predictors of remission and antiepileptic treatment efficacy in partial epilepsies

EEG characteristics of déjà vu phenomenon

Sudden Unexpected Death In Epilepsy (SUDEP) – an update

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