Clinical Neuroscience

[The clinical utility of genetic testing in epilepsy]


SEPTEMBER 23, 2011

Clinical Neuroscience - 2011;64(09-10)

[We summarize those epilepsies, in which genetic testing has clinical significance. Different types of genetic tests are presented. Na-channel epilepsies include different clinical entities, the exact genetic diagnosis is relevant in the prognosis, genetic counseling, as well in the therapeutic decision - as Na-channel blockers may worsen them. Molecular genetic tests are available for most of the malformations of cortical development, important for genetic counseling and prenatal diagnosis. Molecular genetic testing of progressive myoclonic epilepsies, which may be difficult to differentiate clinically is almost complete. For some neonatal/infantile epileptic encephalopathies, for most of the neurometabolic disorders, molecular genetic tests are available, so are cytogenetic tests for chromosomal abnormalities accompanied with epilepsy. The clinical significance of the genetic diagnostic of rare, focal inherited epilepsies is limited, their importance is mostly in epilepsy pathophysiology research. The genetic background of the common idiopathic generalized epilepsies is unrevealed so far.]



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Clinical Neuroscience

[Functional magnetic resonance imaging for cortical mapping in epilepsy]

KOZÁK Lajos Rudolf, TÓTH Vivien, BARSI Péter, RUDAS Gábor

[It is not only the total curative resection of pathological tissue or the minimization of symptoms to be considered in epilepsy surgery or other neurosurgical procedures, it is equally desirable to maintain the best possible quality of life. Cortical mapping methods can help achieve this goal by delineating eloquent areas, i.e. brain regions that are vital for providing an acceptable quality of life, albeit not prone to compensatory reorganization. These areas include among others the Broca and Wernicke regions for speech, the primary motor, sensory and visual cortices. Functional MRI gained importance in the last decade as a non-invasive clinical cortical mapping technique. This method is capable of localizing cortical areas selectively activated by a given task condition. Thus, selecting appropriate tasks can help mapping eloquent brain regions. Using functional MRI provides information that is complementary to other mapping methods. Moreover, it can replace invasive methods such as the Wada test. Here, we explain the background of functional MRI, compare it to other clinical mapping methods, explain the intricacies of paradigm selection, and show the limitations of the technique while also pointing out alternative uses.]

Clinical Neuroscience

[Magnetic resonance measuring and analitic methods in epilepsy]


[Neuroradiology and magnetic resonance imaging (MRI) as its leading tool play a basic role in the diagnostics of epilepsy. The result of the MRI examination is of utmost importance in patients with therapy resistent focal epilepsy possibly requiring neurosurgical intervention. Based on the continuously developing MRI techniques, we can use an optimal imaging protocol. Cerebral structures can be evaluated on a microanatomical level on high-resolution images with thin slices. The three-dimensional (3D) sequence has high spatial resolution, properly distinguishes cerebral grey and white matter, provides the possibility of surface rendering and volumetry, as well as an anatomical basis for other methods like tractography, functional MRI and neuronavigation. Diffusion weighted and diffusion tensor imaging (DWI, DTI) and tractography has an important role in differential diagnostics and tractography visualizes the main white matter tracts and their relation with brain pathologies. MR perfusion (MRP) provides help in differential diagnostics and may have a future role in the determination of the epileptogenic focus in multifocal pathologies. MR spectroscopy (MRS) is important in differential diagnostics, lateralization of focal epilepsy and in the confirmation of hippocampal sclerosis. Several of these methods need special hardware, software and expertise, but the basic MRI protocol for epilepsy can be implemented in all modern MR scanners of middle or high field strength.]

Clinical Neuroscience

[LORETA (Low Resolution Electromagnetic Tomography): A three-dimensional EEG source localization method]


[The author presents a brief overview of the EEG source localization method LORETA (Low Resolution Electromagnetic Tomography) with special reference to the not widely discussed data.]

Clinical Neuroscience

[The methodology and objectives of registrating high frequency oscillation in epilepsy]


[Technological advances in digital EEG allowed the recording the full frequency band of the EEG. Activity beyond the traditional 0.3-70 Hz band reflects both physiological and pathological processes. High frequency activity recorded from the epileptic brain has been related to both epileptogenicity and epileptogenesis. The article reviews research avenues, clinical applications, and the methodology of detecting and quantifying high frequency activity.]

Clinical Neuroscience

[Prolonged EEG-monitoring]


[Prolonged EEG monitoring and video-EEG monitoring are basic methods on the level of epilepsy centers. These methods are able to make differences between epilepsy and non epileptic paroxysmal manifestations like psychogenic non epileptic seizures, parasomniac phenomena, narcolepsy. The application of the method, at least the video-EEG variant, needs team work, high level organisation, highly educated staff and high tech electrographic devices. Running the method even with these requirements is beneficial from the cost-benefit aspect as well.]

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Clinical Neuroscience

Effects of valproate, carbamazepine and levetiracetam on Tp-e interval, Tp-e/QT and Tp-e/QTc ratio


Aim - To evaluate P-wave dispersion before and after antiepileptic drug (AED) treatment as well as to investigate the risk of ventricular repolarization using the Tpeak-Tend (Tp-e) interval and Tp-e/QT ratio in patients with epileptic disorder. Methods - A total of 63 patients receiving AED therapy and 35 healthy adults were included. ECG recordings were obtained before and 3 months after anti-epileptic treatment among patients with epilepsy. For both groups, Tp-e and Tp-e/QT ratio were measured using a 12-lead ECG device. Results - Tp-e interval, Tpe/QT and Tp-e/QTc ratios were found to be higher in the patient group than in the control group (p<0.05, for all), while QTmax ratio was significantly lower in the patient group. After 3 months of AED therapy, significant increases in QT max, QTc max, QTcd, Tp-e, Tp-e/QT, and Tp-e/QTc were found among the patients (p<0.05). When the arrhythmic effects of the drugs before and after treatment were compared, especially in the valproic acid group, there were significant increases in Tp-e interval, Tp-e/QT and Tp-e/QTc values after three months of treatment (p<0.05). Carbamazepine and levetiracetam groups were not statistically significant in terms of pre- and post-treatment values. Conclusions - It was concluded that an arrhythmogenic environment may be associated with the disease, and patients who received AED monotherapy may need to be followed up more closely for arrhythmia.

Clinical Neuroscience

[Zonisamide: one of the first-line antiepileptic drugs in focal epilepsy ]


[Chronic administration of antiepileptic drugs without history of unprovoked epileptic seizures are not recommended for epilepsy prophylaxis. Conversely, if the patient suffered the first unprovoked seizure, then the presence of epileptiform discharges on the EEG, focal neurological signs, and the presence of epileptogenic lesion on the MRI are risk factors for a second seizure (such as for the development of epilepsy). Without these risk factors, the chance of a second seizure is about 25-30%, while the presence of these risk factors (for example signs of previous stroke, neurotrauma, or encephalitis on the MRI) can predict >70% seizure recurrence. Thus the International League Against Epilepsy (ILAE) re-defined the term ’epilepsy’ which can be diagnosed even after the first seizure, if the risk of seizure recurrence is high. According to this definition, we can start antiepileptic drug therapy after a single unprovoked seizure. There are four antiepileptic drugs which has the highest evidence (level „A”) as first-line initial monotherapy for treating newly diagnosed epilepsy. These are: carbamazepine, phenytoin, levetiracetam, and zonisamide (ZNS). The present review focuses on the ZNS. Beacuse ZNS can be administrated once a day, it is an optimal drug for maintaining patient’s compliance and for those patients who have a high risk for developing a non-compliance (for example teenagers and young adults). Due to the low interaction potential, ZNS treatment is safe and effective in treating epilepsy of elderly people. ZNS is an ideal drug in epilepsy accompanied by obesity, because ZNS has a weight loss effect, especially in obese patients.]

Clinical Neuroscience

[Decisional collisions between evidence and experience based medicine in care of people with epilepsy]


[Background – Based on the literature and his long-term clinical practice the author stresses the main collisions of evidence and experience based medicine in the care of people with epilepsy. Purpose – To see, what are the professional decisions of high responsibility in the epilepsy-care, in whose the relevant clinical research is still lacking or does not give a satisfactory basis. Methods – Following the structure of the Hungarian Guideline the author points the critical situations and decisions. He explains also the causes of the dilemmas: the lack or uncertainty of evidences or the difficulty of scientific investigation of the situation. Results – There are some priorities of experience based medicine in the following areas: definition of epilepsy, classification of seizures, etiology – including genetic background –, role of precipitating and provoking factors. These are able to influence the complex diagnosis. In the pharmacotherapy the choice of the first drug and the optimal algorithm as well as the tasks during the care are also depends on personal experiences sometimes contradictory to the official recommendations. Same can occur in the choice of the non-pharmacological treatments and rehabilitation. Discussion and conclusion – Personal professional experiences (and interests of patients) must be obligatory accessories of evidence based attitude, but for achieving the optimal results, in some situations they replace the official recommendations. Therefore it is very important that the problematic patients do meet experts having necessary experiences and also professional responsibility to help in these decisions. ]

Clinical Neuroscience

[LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders]

SOÓS Zsuzsanna, SALAMON Mónika, ERDEI Katalin, KASZÁS Nóra, FOLYOVICH András, SZŰCS Anna, BARCS Gábor, ARÁNYI Zsuzsanna, SKALICZKI József, VADASDI Károly, WINKLER Gábor

[Celiac disease - in its typical form - is a chronic immunemediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.]

Clinical Neuroscience

Relationship between Status Epilepticus Severity Score and etiology in adult NCSE patients

GENC Fatma, ERDAL Abidin, AKCA Gizem, KARACAY Ertan, GÖKSU Özaydın Eylem, KUTLU Gülnihal, GÖMCELI Bicer Yasemin

Purpose - Nonconvulsive status epilepticus (NCSE) is a heterogeneous, severe neurological disorder of different etiologies. In this study, the outcomes of NCSE episodes was assessed in a large series of adult patients. Our objective was to evaluate relationship between Status Epilepticus Severity Score (STESS) and etiology and the role of etiological factors on predicting the outcomes. Method - In this retrospective study, the medical records of 95 patients over 18 years of age who were diagnosed with NCSE between June 2011 and December 2015 were reviewed. Their treatment and follow-up for NCSE was performed at the Epilepsy Unit in Department of Neurology, Antalya Research and Training Hospital. Etiological factors thought to be responsible for NCSE episodes as well as the prognostic data were retrieved. The etiological factors were classified into three groups as those with a known history of epilepsy (Group 1), primary neurological disorder (Group 2), or systemic/unknown etiology (Group 3). STESS was retrospectively applied to patients. Results - There were 95 participants, 59 of whom were female. Group 1, Group 2, and Group 3 consisted of 11 (7 female), 54 (33 female), and 30 (19 female) patients, respectively. Of the 18 total deaths, 12 occurred in Group 2, and 6 in Group 3. The negative predictive value for a STESS score of ≤ 2 was 93.88% (+LR 2.05 95% CI: 1.44-2.9 and -LR 0.3 95% CI 0.10-0.84 ) in the overall study group. While the corresponding values for Group 1 (patients with epilepsy), Group 2 (patients with primary neurological disorder), and group 3 (patients with systemic or unknown etiology) were 100%, 92.59% (+LR 2.06 95%CI: 1.32-3.21 and -LR 0.28 95% CI 0.08-1.02 ) 83.33% (+LR 1.14 95%CI: 0.59-2.9 and -LR 0.80 95% CI 0.23-2.73). Conclusions - This study included the one of the largest patients series ever reported in whom STESS, a clinical scoring system proposed for use in patients with status epilepticus, has been implemented. Although STESS appeared to be quite useful for predicting a favorable outcome in NCSE patients with epilepsy and primary neurological disorders, its predictive value in patients with systemic or unknown etiology was lower. Further prospective studies including larger NCSE samples are warranted.