<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0021_s_001"><h3>Introduction</h3><p>Lennox-Gastaut syndrome (LGS) is a type of therapy-resistant epileptic syndrome. Since the establishment of our Epilepsy Center in 1975 we have performed many studies to assess the clinical symptoms, seizure manifestations, sleep and long-term follow-up of the clinical course and changes on electroencephalographs (EEGs) in patients with LGS.</p></sec><sec id="j_joepi-2015-0021_s_002"><h3>Aim</h3><p>To review the updated pathophysiology of LGS based on our own clinico-electrophysiological data referring to recent advances in brain research.</p></sec><sec id="j_joepi-2015-0021_s_003"><h3>Methods</h3><p>All of our previously published and unpublished data were reviewed in order to investigate the pathophysiology of LGS and using PubMed database for relevant literature.</p></sec><sec id="j_joepi-2015-0021_s_004"><h3>Results and Discussion</h3><p>While LGS usually occurs in infancy, it has become apparent that there is a form of late-onset LGS (L-LGS) that may occur at age eight or older. L-LGS often occurs when there is a history of encephalitis/encephalopathy or status epilepticus. The long-term progression of LGS includes mainly tonic seizures that persist and are the basis of LGS. In approximately 30% of cases, the basic symptoms of LGS remain 10 years or longer after long-term progression, while the rest lose their characteristics, although the condition is residual in 60% of cases and remission occurs in fewer than 10%. Among the characteristic seizures associated with LGS, atypical absence seizures occur in response to a diverse range of EEG features; wherein, while they are mostly short, they are accompanied by a state of enervation along with a tendency for it to be unclear when the seizure has ended. Drop attacks can in fact be categorized into those in which the subject falls over due to hypertonia in the muscles used to maintain body posture and those in which the subject falls over due to loss of tension in the posture-retaining muscles. Tonic seizures range from those manifesting in the form of extremely mild axial muscle tonicity, open eyes and respiratory changes, accompanied by high voltage, fast rhythm (averaging 14 ± 0.4 Hz), or tonicity from axorhyzomelic muscles to the peripheral muscles, accompanying global tonic seizures, and EEG features showing low voltage fast activity (averaging 22 ± 0.6 Hz) from desynchronization. A total of 1191 clinical seizures were recorded upon overnight polysomnography and videotape, and seizure symptoms and their ictal EEGs were analyzed. In LGS, seizure activity increases during slow wave sleep, inhibiting progression into the further sleep stages but falls significantly during rapid eye movement (REM) sleep.</p></sec><sec id="j_joepi-2015-0021_s_005"><h3>Conclusions</h3><p>From the research into seizure symptoms, clinical progression, sleep and seizures during sleep, it was believed that in LGS epileptic native lesions occur due to mesencephalic reticular formation, in the thalamic reticular system and, as a result of recent of brain physiology research, it is considered that LGS is an epileptic reticulo-thalamo-cortical system disorder. This has been supported by EEG-fMRI findings (Siniatchikin et al., 2011). Further research is therefore necessary to elucidate the role of the reticular formation in controlling the thalamo-cortical networks in humans.</p></sec></abstract>

The pathophysiology of Lennox-Gastaut syndrome – a review of clinico-electrophysiological studies

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0022_s_001"><h3>Introduction</h3><p>Neurostimulation and neuromodulation are techniques that may be able to affect the course of epilepsy. In the last 20 years, since the approval of VNS, we have observed a surge of studies assessing the potential of other devices and techniques for the treatment of pharmacoresistant epilepsies including deep brain stimulation (DBS), responsive neurostimulation (RNS), trigeminal nerve stimulation (TNS), transcranial direct current stimulation (tDCS), and repetitive transcranial magnetic stimulation (rTMS). Are these devices and techniques simply another treatment option that can be offered to patients with epilepsy or do they offer specific advantages when compared to the standard antiepileptic drugs (AEDs)?</p></sec><sec id="j_joepi-2015-0022_s_002"><h3>Aim</h3><p>The aim of this review is to present the neurostimulation and neuromodulation devices and techniques that are now in use, or at least available for testing and to discuss the science behind them, their applications, efficacy, potential risks vs. benefits and, above all, how to navigate the choices so clinicians are able to provide their patients with the best possible option for the treatment of epilepsy.</p></sec><sec id="j_joepi-2015-0022_s_003"><h3>Material and methods</h3><p>We analyzed PubMed and MEDLINE databases to select the most salient and recent (up to November 2014) publications on each treatment device. In addition to these searches bibliographies of selected articles were hand-searched for possible sources.</p></sec><sec id="j_joepi-2015-0022_s_004"><h3>Discussion and conclusions</h3><p>Great progress in neurostimulation and neuromodulation has been made over the last two decades with 2 devices (VNS, RNS) approved for the treatment of epilepsy in the US and three (DBS in addition to VNS and RNS) in Europe. The future of neuromodulation/neurostimulation is exciting – various studies and efforts are underway and will provide us with more data in the future. There appears to be one clear advantage of these treatments/devices over the AEDs that is consistently noted – routinely observed is continuous improvement in seizure control over time. This is something that the AEDs have thus far failed to deliver.</p></sec></abstract>

Neurostimulation, neuromodulation, and the treatment of epilepsies

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0023_s_001"><h3>Introduction</h3><p>The seizure propagation phenomenon by inducing remote symptoms brings several difficulties in finding the seizure onset and delineating the epileptic network which should be taken into consideration in epilepsy surgery. By demonstrating a difficult (MRI negative) epilepsy surgery case explored with invasive presurgical evaluation we highlight the importance to recognise the secondary sensory area and to explore the the parieto-opercular-insular-medial frontal network in certain cases. A further conclusion is the consideration of the redistributory role of the insula as a special structure in the cerebral connectome, having a role in epileptic network organisation.</p></sec><sec id="j_joepi-2015-0023_s_002"><h3>Aims</h3><p>To support the role of the insula in the organisation of an opercular – medial frontal epileptic network and to confirm Penfield’s the “second somatic sensory leg area” by way of a case report. We try to give an up to date exploration of our patient’s remote epileptic seizures by way of a connectome.</p></sec><sec id="j_joepi-2015-0023_s_003"><h3>Methods</h3><p>The epileptic disorder was studied with intensive video EEG monitoring and two times 3T MRI. Interictal FDG (fluorodeoxyglucose) PET was also undertaken. Beside the scalp EEG and computerized frequency analysis, the evaluation was performed by invasive EEG with 2 grids and 2 strips and an insular deep electrode in addition. Electrical cortical stimulation and cortical mapping were also undertaken.</p></sec><sec id="j_joepi-2015-0023_s_004"><h3>Results</h3><p>The video-EEG study revealed the complex seizure semiology. The left sided global somatosesensory aura in the leg, followed supplementary motor area manifestations represented a remote seizure. The seizure onset zone and the symptomatogenic zone were localised by the invasive electrophysiology. With the insular deep electrode we succeeded to explore the propagation of ictal activity to the insula and later to frontal medial surface. The PET, the negative 3T MRI results and the postprocessing morphometry confirmed the lesional origin and localised the epileptogenic area to the second somato-sensory field where a dysgenesis was located.</p></sec><sec id="j_joepi-2015-0023_s_005"><h3>Conclusions</h3><p>By preoperative invasive video-EEG evaluation, the second somato-sensory leg area was delineated as the seizure onset zone. The resection of this area by IIb type cortical dysgenesis, resulted in a complete relief of the seizures. The invasive video-EEG revealed the peculiar role of the insula in the propagation of the epileptic seizure from the second sensory leg area to the ipsilateral fronto-medial supplemetary motor area. Our results, confirm, that the insula has a relay or node function on the parietal opercular-fronto-medial epileptic network. The connectome of the insula is a further additive of the scale-free features of the remote epileptic networks.</p></sec></abstract>

Epileptic seizure propagation from the second somatic sensory area to the fronto-medial region, by insular redistribution. A case report and a connectome description

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0024_s_001"><h3>Introduction</h3><p>The traditional view of cognition in idiopathic or genetic generalized epilepsy (GGE) is that “one size fits all” i.e. only very mild generalized impairment might be detected, if any. This paper describes four case studies of cognitive functioning in GGE patients with photosensitivity and reflexive seizures.</p></sec><sec id="j_joepi-2015-0024_s_002"><h3>Aim</h3><p>The aim was to discover whether each individual’s set of cognitive deficits varied in accordance with his/her other clinical phenomena such as photosensitivity and kinds of reflexive seizures.</p></sec><sec id="j_joepi-2015-0024_s_003"><h3>Method</h3><p>Neurological and cognitive performance was assessed by comprehensive evaluation of each patient based on interviews, neurologist’s EEG reports and neuropsychological tests. Assessment of cognitive domains included estimated pre-morbid I.Q. based on reading ability and demographic norms, current I.Q., attention factors, verbal memory, visual memory and executive functions.</p></sec><sec id="j_joepi-2015-0024_s_004"><h3>Results</h3><p>Clinical signs and investigative studies indicated that two cases typically began reflexive seizure episodes with facial myoclonia which evolved into tonic-clonic convulsions or generalized myoclonic seizures. These patients had widespread attention and working memory deficits, some severe, together with lowered intelligence scores. In contrast, two other cases (with no history of myoclonus) had generalized reflexive seizures originating in the occipital lobes, very mild localized visual dysfunction and high intelligence.</p></sec><sec id="j_joepi-2015-0024_s_005"><h3>Conclusions</h3><p>The systematic variation in extent and nature of cognitive dysfunction illustrated in these cases with reflexive seizures (preceded by myoclonia or visual phenomena) would be explained by a more recent conceptualization of GGE as encompassing regional differences in variable hyperexcitability located at cortical levels or functional neural networks.</p></sec></abstract>

Variations in cognitive functioning in genetic generalized epilepsy: four case studies

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0025_s_001"><h3>Background</h3><p>Early identification of potential epilepsy surgery candidates is essential to the treatment process.</p></sec><sec id="j_joepi-2015-0025_s_002"><h3>Aim</h3><p>To evaluate the clinical applicability of the ILAE definition of drug resistant epilepsy and its potential in identifying surgical candidates earlier compared to three established “older” definitions of drug resistant epilepsy.</p></sec><sec id="j_joepi-2015-0025_s_003"><h3>Material and Methods</h3><p>Retrospective analysis of 174 patients who underwent epilepsy surgery between 1998 and 2009. Clinical factors and course of disease were extracted from patients’ charts. Drug resistant epilepsy was classified according to four definitions and the time until fulfillment of criteria compared.</p></sec><sec id="j_joepi-2015-0025_s_004"><h3>Results</h3><p>Mean time to fulfillment of criteria of drug resistant epilepsy ranged from 11.8 (standard deviation (SD) 9.8) to 15.6 years (SD 11.3). Time to drug resistance was significantly longer applying the only definition, requiring failure of three antiepileptic drugs (AEDs) (Canada definition), whereas time to fulfillment of all other definitions did not differ. Fifty percent of all patients experienced a seizure free period of ≥1 year prior to being classified as drug resistant, 13% entered another 1-year remission after fulfilling any criteria for drug resistance.</p></sec><sec id="j_joepi-2015-0025_s_005"><h3>Conclusion</h3><p>We conclude that the ILAE definition identifies drug resistant epilepsy, with similar latency like two of three formerly used definitions. It is an easy applicable tool to minimize the delay of referral to a specialized center. Intermittent remissions delay assessment of drug resistance for all definitions and 13% of patients enter a remission despite established drug resistance.</p></sec></abstract>

The ILAE definition of drug resistant epilepsy and its clinical applicability compared with “older” established definitions
 

<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0026_s_001"><h3>Introduction</h3><p>Myoclonic epilepsy with ragged red fibers (MERRF) is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed.</p></sec><sec id="j_joepi-2015-0026_s_002"><h3>Description of case</h3><p>We present the case of an 18-year-old patient with progressive neurological symptoms such as multifocal myoclonus, cerebellar syndrome (gait impairment, intention tremor, ataxia and dysmetria). The diagnosis of MERRF was confirmed at the age of 16. Neuropsychological examination showed slowing of verbal learning and deficient spontaneous recall with improvement on recognition as well as low verbal fluency.</p></sec><sec id="j_joepi-2015-0026_s_003"><h3>Discussion</h3><p>The authors discuss differential diagnosis of mitochondrial diseases (MIDs) in respect to cognitive function impairment and, in particular, to dementia: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), KSS (Kearns-Sayre syndrome), NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa and ptosis). The authors emphasize importance of comprehensive neuropsychological assessment in differential diagnosis of MIDs.</p></sec><sec id="j_joepi-2015-0026_s_004"><h3>Conclusion</h3><p>Mild and selective cognitive impairment was identified. The type and degree of cognitive function impairment is not sufficient to diagnose dementia in this particular case of MERRF. Comprehensive neuropsychological assessment is crucial in MID in order to provide the patient with useful recommendations for education planning.</p></sec></abstract>

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

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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. 