Search results

1

Failure of a first regimen of monotherapy to control the newly diagnosed epilepsies. What to do next?

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Pimentel J.

Journal of Epileptology

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2014

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vol. 22

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issue 2

109-112

EN

Background. Monotherapy is the choice regimen to treat newly diagnosed epilepsies. However, if it fails, several strategies may be followed. Aim. To discuss the treatment options when an initial monotherapy regimen fails. Methods. We reviewed the relevant literature on the topic by using PubMed. Review and Discussion. Approximately 64% of people with epilepsy (PWE) de novo are free of seizures with the first appropriate antiepileptic drug (AED) in monotherapy. The type (first versus second generation) of the first AED to use depends on the physician's personal choice provided that it is a first-line AED. There is a tendency to prefer a substitution rather than a combination of a failed first AED when it was produced associated with an idiosyncratic reaction, was poorly tolerated at a moderate dose, or produced no improvement in seizure control. In contrast, there is some evidence to prefer secondary polytherapy whenever the PWE tolerate its first AED but with a suboptimal response. In this case, and particularly mainly if a first generation AED was used as a first-line treatment, I prefer to choose a new generation AED given their more favourable pharmacokinetic and pharmacodynamic profiles. A very often used strategy is transitional polytherapy between two regimens of monotherapy. Conclusion. Any therapeutic decision should take into account factors such as seizure type or syndrome, possibility of drug side effects, comorbidities, comedications, age, teratogenic potential, and compliance. Whatever the option to be taken, the PWE, his family or the caregivers should take part in the decision making.

2

Cognitive impairment predicts social disability in persons with epilepsy

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Bujarski K. A., Wozniak G., Kobylarz E. J.

Journal of Epileptology

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2014

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vol. 22

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issue 2

89-97

EN

Introduction. Cognitive dysfunction is one of the main comorbidities of epilepsy which co-exists with seizures and contributes to the adverse impact of the disease on employment, education and interpersonal relationships. A fundamental question regarding cognitive dysfunction in epilepsy goes as follows: in comparison to seizures, what role does cognitive dysfunction play in causing social disability? The purpose of this review was to evaluate our understanding of the role cognitive impairment plays in social disability in persons with epilepsy (PWE). We systematically searched the medical literature and identified studies which assessed the impact of seizures and cognitive function on some aspect of social disability in PWE. Results and Discussion. We identified 12 studies which adequately measured all variables in non-surgical cohorts, and 9 studies of cohorts following epilepsy surgery. We found evidence from non-surgical and from surgical series that cognitive variables strongly correlate with levels of social disability. Conclusions. We conclude that efforts to better understand the origins of cognitive dysfunction in epilepsy and subsequently at developing treatment modalities will be needed in order to reduce the degree of social disability caused by the condition.

3

Handedness, cognitive processing and intelligence in patients with epilepsy

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Kalinin V. V., Nazmetdinova D. M., Basamygin A. V.

Journal of Epileptology

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2014

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vol. 22

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issue 1

5-10

EN

Introduction. The current knowledge of significance of some neurobiological and clinical variables for the development of cognitive deterioration in patients with epilepsy remains sparse and controversial. Aim. The current study has been carried out in order to elucidate the role of handedness in terms of influence on cognitive processing and intelligence in patients with epilepsy. Material and methods. One hundred and thirty two patients (62 males, 70 females, aged 27.8 ± 8.9 years) with epilepsy participated in the study. Patients were divided into two groups. The first group included 112 patients that were characterized by intelligence and cognitive impairment while the second group (20 patients) had no mental deterioration and was regarded as controls. The two diagnostic categories accorded with ICD-10 criteria. The diagnosis of Dementia (F-02.8) was confirmed in 54 patients, while the diagnosis of Mild Cognitive Impairment (F-06.7) was confirmed in 58 patients. Results. Our results show that the level of left-handers among patients with cognitive Impairment achieved 14.2%, whilst in the group without cognitive deterioration there were no left-handers, and this difference was statistically significant (p = 0.051). An analysis of possible influence of motor lateralization on degree of cognitive deterioration, revealed that left-handedness determines the higher degrees of intelligence deterioration compared with right-handedness (χ2 = 6.64; p < 0,05). These data were confirmed by use of Wechsler Adult Intelligence Scale (WAIS) and the Mini Mental State Examination (MMSE) tests, and all left-handed epilepsy patients achieved lower scores on MMSE, total WAIS, as well as verbal and nonverbal WAIS scores. Conclusion. Our data confirm a role of some neurobiological variables, with emphasis on cerebral motor lateralization, in their influence upon intelligence level and cognitive deterioration in epilepsy. These data may be used for predictive purposes of intelligence assessment in patients with epilepsy.

4

Current knowledge about epilepsy and associated psychosocial conditions

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Talarska D., Stanislawska J., Strugala M., Talarska P.

Journal of Epileptology

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2014

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vol. 22

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issue 1

25-36

EN

Introduction. Social knowledge about epilepsy has significant influence on shaping attitudes towards people with this disorder. Aim. The aim of the article was to find out an answer to the following question: How does the level of knowledge and perceiving people with epilepsy differ across societies of different countries? Material and methods. We evaluated 30 publications published between 2000 and 2013 on measuring the knowledge about epilepsy and psycho-social functioning of people with epilepsy. The articles were divided into five groups (including five continents): Europe-14 articles: six from Poland and eight from other countries, one from New Zealand, five from America, six from Asia and four from Africa. Discussion and conclusions. Despite widespread occurrence of the disorder in the world, the level of knowledge about epilepsy is low. Most authors, but also respondents, still postulate the necessity to introduce education on the matter to various age groups. The best form of communication used by the respondents is the media.

5

Successful treatment with adjunctive lacosamide in a patient with long term “drug resistant” focal epilepsy

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Fröscher W., Rauber A.

Journal of Epileptology

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2014

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vol. 22

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issue 1

51-55

EN

Introduction. A significant number of patients suffering from epilepsy prove to be resistant to antiepileptic drugs (AEDs). Recent studies, however, suggest that 10–20% of seemingly drug resistant patients may still become seizure-free under the influence of subsequent dosage modifications. Case report. We report on a young man with cryptogenic focal epilepsy. He had his first seizure at the age of fifteen. His seizure frequency was decreased during the following 11 years. However, seizure-freedom was never achieved even though he was treated with twelve to fourteen different AEDs during this time. Intensive presurgical evaluations did not allow identification of a surgically remediable focus. Adjunctive treatment with lacosamide 400 mg/day was not successful. However, the patient became seizure-free immediately after an increase of the lacosamide dose up to 500 mg/day. The patient is now seizure-free for more than two years based on a combination of 500 mg lacosamide and 350 mg lamotrigine, followed by 550 mg and 250 mg, respectively. Discussion and conclusion. This case report highlights that there is always a chance that modifying the medication can result in a drug-resistant epilepsy patient experiencing a significant reduction of seizures and becoming seizure-free. The decisive step in this example was the off-label prescription of a high dose of lacosamide which the patient tolerated well.

6

EEG characteristics of déjà vu phenomenon

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Chervyakov A. V., Gnezditskii V. V., Vlasov P. N., Kalmykova G. V.

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vol. 21

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issue 1

27-35

EN

Introduction. 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. Aim. Investigation of clinical and diagnostic significance of derealization episodes in epilepsy. Materials and methods. 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). Results. 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. Conclusion. 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.

7

Can we prevent epilepsy? Yes, we can!

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Jóźwiak S.

European Journal of Translational and Clinical Medicine

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2021

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vol. 4

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issue 1

10-12

EN

Epilepsy appears in 1% of global population and despite a progress in medicine still around 30% of patients have drug-resistant epilepsy. In recent years increasing attention is paid to possibility of epilepsy prevention. Candidate groups for such treatment are eagerly looked for. One of them is tuberous sclerosis complex (TSC).

8

The structure of dental procedures under general anaesthesia in children and adolescents with epilepsy

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Tkaczuk-Płocica M., Szymańska J., Rosiak J.

Polish Journal of Public Health

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2015

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vol. 124

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issue 1

29-32

EN

Introduction. One of the indications for dental treatment in general anaesthesia of children and adolescents is the patients’ refusal to cooperate with the dentist; this concerns especially the so-called special care patients, and among them, those suffering from epilepsy. Aim. The aim of the study was to evaluate the structure of treatment procedures in conservative dentistry and dental surgery performed under general anaesthesia in children and adolescents with epilepsy. Material and methods. The analysis covered case histories of 109 patients with epilepsy, aged 3-18 years, who received dental treatment under general anaesthesia. The patients were divided into three age groups, according to the dentition type: patients with deciduous dentition - 3-5 years of age; with mixed dentition - 6-12 years, and with permanent dentition - 13-18 years. The analysis concerned the procedures on both deciduous and permanent teeth. Results. An average number of extractions in a child with full deciduous dentition was 3.9 teeth, while in a child with mixed dentition - 2.7 teeth. The greatest number of deciduous teeth extractions concerned first and second molars. Carious cavities in the occlusal surfaces of permanent teeth, due to deep caries, were the most frequently treated lesions. Conclusions. In patients with epilepsy treated under general anaesthesia, extensive treatment needs, resulting from prophylactic and therapeutic neglect in dental care, were found. Conservative and surgical treatment, combined with prophylactic procedures, performed under general anaesthesia seems one of the necessary elements of a complex dental care in uncooperative children and adolescents

9

Designed Filter with CCII+ and Analysis of EEG for Epilepsy and Alzheimer

88%

Kitiş Ş., Apaydın H., Güntürkün R.

Acta Physica Polonica A

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2017

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vol. 132

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issue 3

423-426

EN

Biomedical signals are usually low amplitude and high bandwidth signals. EEG signals are very low amplitude (generally less than 300 μV) and very high bandwidth (range from 0.5 to 100 Hz), too. EEG was used to assist in the diagnosis of brain damage, Alzheimer disease and Parkinson disease, and certain mental disorders. In this study amplifier and filters designed with CCII+ and these simulations are performed with PSPICE program. Normal brain signal, the Alzheimer brain signal, epilepsy brain signal are compared, the shrinking hippocampus compared 25 years old normal brain, 75 years old normal brain and 75 years old with the Alzheimer brain.

10

Detection ofSCN1Amutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

88%

Sugawara T., Yoshida S., Onodera N., Wada K., Hirose S., Kaneko S.

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vol. 21

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issue 1

5-13

EN

Introduction. 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 (SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A, and CACNA1H) have been mounted. Aim. The aim of the present study is to evaluate the performance of our custom array in detecting the SCN1Amutations in patients with severe myoclonic epilepsy in infancy. Material and methods. 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. Results. 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. Conclusion. These findings indicate that this DNA array is likely to be a useful tool in clinical settings.

11

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

88%

Domańska M., Sitek E. J., Schinwelski M., Mazurkiewicz-Bełdzińska M., Matheisel A., Sławek J.

Journal of Epileptology

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2015

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vol. 23

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issue 1

69-74

EN

Introduction. 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. Description of case. 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. Discussion. 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. Conclusion. 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.

12

Recent advances in pathophysiology studies and treatment of epilepsy in neurocutaneous disorders

88%

Sadowski K., Jóźwiak S.

Journal of Epileptology

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2014

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vol. 22

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issue 2

99-108

EN

Introduction. Epilepsy that is associated with neurocutaneous disorders seriously deteriorates quality of life and cognitive outcome of affected children. Recent advances in epilepsy pathophysiology raise hopes for better treatment results in this difficult group of patients. Aim. The aim of this review is to present recent treatment recommendations as well as current research progress in the most frequent neurocutaneous disorders. Material and methods. We analyzed PubMed database to select the most prominent and recent (up to 2014 year) publications on the treatment and mechanisms of epilepsy in selected neurocutaneous disorders. We aimed to emphasize evidence-based medicine recommendations as well as basic experimental studies dealing with molecular mechanisms of epileptogenesis. Discussion and conclusions. Recent advances in disease-modifying treatment options such as mTOR inhibitors in patients with tuberous sclerosis complex open up new perspectives for neurologists. Traditional resective surgery has still a major role as a treatment of choice in carefully selected cases.

13

Cognitive dysfunctions in a Minimally Verbal (MV) patient with Autism Spectrum Disorder (ASD)

88%

Markiewicz K., Kaczmarek B. L. J., Kropotov J. D., MacQueen W. D., MacQueen B. D., Pachalska M.

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vol. 17(3)

301-310

EN

The aim of this study was to examine the neurophysiological correlates of cognitive dysfunctions in a patient with the minimally verbal variant of Autism Spectrum Disorder (ASD + MV), who after reaching adulthood showed progressive deterioration of his cognitive skills. The patient was a 25-year-old male, diagnosed with ASD. He never developed spoken language, and communicated only by gesturing or writing on a computer. Our findings confirmed comorbidity of ASD and epilepsy, accompanied by dysfunction of cognitive control. We also found that spontaneous EEG and event-related potentials (ERPs) in a cued GO/NOGO task can be used to assess functional brain changes concomitant with ASD.

14

ADVANCES AND LIMITATIONS IN PHARMACOTHERAPY OF EPILEPSY

88%

Rapacz A.

Acta Poloniae Pharmaceutica - Drug Research

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2018

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vol. 75

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issue 5

1069-1082

EN

Epilepsy is a chronic neurologic disorder that affects about 0.7% of the population. Patients with epilepsy suffer from recurrent seizures, which can be focal or generalized in nature. The third-generation of anticonvulsant drugs includes lacosamide, rufinamide, vigabatrin, retigabine, perampanel, eslicarbazepine acetate, brivaracetam and stiripentol. Other compounds, such as ganaxolone, cannabidiol, selurampanel, and everolimus among others, with different mechanisms of action are currently in clinical development. Furthermore, numerous compounds or classes of compounds are investigated in preclinical studies. Nevertheless, about 30% of epilepsy patients suffer from uncontrolled seizures despite pharmacotherapy, including the third-generation of anticonvulsant drugs. Additionally, the occurrence of adverse drug effects is responsible for poor compliance as well as discontinuation of the therapy, in up to 25% of patients before having reached the effective dose amount. Neuropsychiatric undesirable effects, include depression, aggression, irritable mood, anxiety, mood instability, paranoid ideation, delusions, hallucinations. Moreover, suicidal ideation and behaviour have been reported in patients treated with anticonvulsant drugs.

15

Zastosowanie SMR neurofeedbacku w padaczce lekoopornej

88%

Kopka M.

Aktualności Neurologiczne

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2015

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vol. 15

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issue 2

88-90

EN

Epilepsy is one of the most frequent neurologic disorders. The main aim of epilepsy treatment is to improve the quality of life, and to reduce epileptic seizures. Epilepsy is described as drug resistant if adequate trials of two tolerated and appropriately chosen and used treatments fail to achieve sustained seizure freedom. In Poland, 400,000 people suffer from epilepsy, and 30% of them have drug-resistant epilepsy. Surgical treatment is available for only some of these patients. The pursuit for new methods of alternative treatment continues, with neurofeedback seemingly emerging as one of viable options. Neurofeedback is a training method based on biofeedback, which can be described as providing information about the changes of the physiological signals to the trained person. In essence, neurofeedback takes place, if the bioelectrical activity of the brain (EEG) is the signal registered during the biofeedback training. The aim of this article is to present the knowledge regarding the use of SMR neurofeedback in the treatment of resistant epilepsy. In 1972, Sterman and Friar, encouraged by the positive results of studies in animals, for the first time attempted to use neurofeedback for the treatment of drug-resistant epilepsy. In the last decade, two independent meta-analyses were published. It seems that SMR neurofeedback should be considered as adjunctive method of treatment in patients with resistant epilepsy, particularly in cases where other methods have failed. More randomised controlled studies are needed to confirm the efficacy of this method of treatment. The directions of future studies have been highlighted in the article.

PL

Padaczka to jedno z najczęstszych schorzeń neurologicznych. Głównym celem leczenia jest zmniejszenie liczby napadów, a co za tym idzie – poprawa jakości życia chorych. Jeżeli dwie próby odpowiednio dobranego, tolerowanego i zastosowanego leczenia farmakologicznego okazują się nieskuteczne, padaczkę określa się mianem lekoopornej. W Polsce na padaczkę choruje około 400 tysięcy osób, u około 30% z nich występuje postać lekooporna. Tylko część pacjentów może skorzystać z leczenia chirurgicznego, istnieje zatem potrzeba poszukiwania alternatywnych metod wspomagania terapii. Jedną z nich wydaje się SMR neurofeedback – metoda treningu oparta na zasadzie biologicznego sprzężenia zwrotnego, czyli dostarczania choremu informacji zwrotnej o zmianach wartości rejestrowanych parametrów fizjologicznych. Gdy podczas treningu rejestrowana jest i wykorzystywana czynność bioelektryczna mózgu (EEG), mówimy o neurofeedbacku. Artykuł ma na celu przedstawienie wiedzy na temat stosowania SMR neurofeedbacku w leczeniu osób z padaczką lekooporną. W 1972 roku Sterman i Friar, zachęceni pozytywnymi wynikami badań na zwierzętach, podjęli pierwszą próbę leczenia za pomocą neurofeedbacku pacjentki z padaczką lekooporną, zaś w ostatniej dekadzie opublikowano wyniki dwóch niezależnych metaanaliz. Wydaje się, że neurofeedback powinien być brany pod uwagę jako terapia uzupełniająca w przypadku chorych z padaczką lekooporną, zwłaszcza gdy zawiodły inne metody. Do potwierdzenia skuteczności neurofeedbacku konieczne są dalsze randomizowane badania kontrolowane – w pracy wskazano ich kierunki.

16

Obraz kliniczny deficytu transportera kreatyny. Opis przypadku

75%

Lemska A., Zawadzka M., Lemka M., Sawicka A., Kwarciany M., Mazurkiewicz-Bełdzińska M.

Neurologia Dziecięca

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2018

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vol. 27

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issue 55

63-67

EN

Creatine is an endogenous organic substance used to store and release the energy necessary for metabolic processes in the body. It occurs mainly (98%) in muscles. Small amounts of this component are also found in brain, liver and kidneys. The diseases leading to the synthesis and transport disorders of creatine are called CCDS - cerebral creatine deficiency syndromes. These inborn errors of creatine metabolism include: GAMT – guanidinoacetate methyltransferase deficiency, AGAT – L-arginine: glycine amidinotransferase deficiency and CRTR – creatine transporter deficiency, chromosome X recessive disorders. We present the case of a patient with drug resistant epilepsy, intellectual disability and positive family history (epilepsy and intellectual disability in brother). Due to the possible family disorder we performed the genetic testing for common mutations associated with epilepsy. The SLC6A8 mutation responsible for creatine deficiency syndrome was found. By performing MRI spectroscopy we confirmed the diagnosis. We applied supplementation of creatine monohydrate, arginine and glycine. The frequency of cerebral creatine deficiency syndromes is not known. The most suitable diagnosis is indicating decreased (or lack) peak of creatine in MRI spectroscopy. In AGAT and GAMT supplementation of creatine is applied.

PL

Kreatyna jest endogenną substancją organiczną, wykorzystywaną do magazynowania i uwalniania energii, niezbędnej do procesów metabolicznych zachodzących w organizmie. Substancja ta występuje głównie (98%) w mięśniach, małe ilości tego związku znajdują się także w mózgu, wątrobie i nerkach. Do chorób prowadzących do zaburzeń syntezy i transportu kreatyny zaliczane są: GAMT – deficyt metylotransferazy guanidynoocatnu i AGAT – deficyt aminotransferazy arginia-glicyna, schorzenia dziedziczone autosomalnie recesywnie oraz CRTR – deficyt transportera kreatyny, schorzenie dziedziczone recesywnie z chromosomem X. W pracy przedstawiono przebieg choroby u chłopca z padaczką lekooporną oraz niepełnosprawnością intelektualną w stopniu znacznym. Z obciążonym w kierunku chorób neurologicznych wywiadem rodzinnym (padaczka i niepełnosprawność intelektualna u brata). Wobec możliwego rodzinnego charakteru schorzenia wykonano panel genetyczny w kierunku najczęstszych mutacji związanych z padaczką. W badaniu wykryto mutację w genie SLC6A8 odpowiadającą za deficyt transportera kreatyny (CRTR). Rozpoznanie potwierdzono wykonaniem spektroskopii MR. U chłopca włączono suplementację kreatyną, argininą i glicyną. Częstość występowania zaburzeń syntezy kreatyny nie jest znana. Złotym standardem rozpoznania jest wykazanie obniżonego (lub braku) piku kreatyny w badaniu spektroskopii MR. W przypadku AGAT i GAMT z powodzeniem stosuje się suplementację kreatyną.

17

Padaczka w wybranych chorobach neurometabolicznych

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Paprocka J., Emich-Widera E.

Neurologia Dziecięca

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2018

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vol. 27

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issue 55

29-37

EN

In the group of neurometabolic diseases epilepsy is a common feature. Over 268 inborn errors of metabolism may cover epileptic seizures in their clinical picture. In the case of newborn seizures, inborn errors of metablism may be diagnosed in 1,1–7,4% of patients. According to other authors, incidence of epilepsy in neurometabolic disorders is around 7%. Early diagnosis of epilepsy in the course of treatable metabolic diseases is crucial. The authors have reviewed the selected treatable metabolic conditions as a cause of epilepsy.

PL

W grupie chorób neurometabolicznych padaczka stanowi bardzo częsty objaw. Ponad 268 wrodzonych wad metabolizmu w obrazie klinicznym zawiera napady padaczkowe. W przypadku drgawek noworodkowych wrodzone wady metabolizmu (wwm) można zdiagnozować u 1,1–7,4% pacjentów. Według innych autorów częstość występowania padaczki w chorobach neurometabolicznych wynosi około 7%. Wczesna diagnoza poddających się leczeniu wrodzonych wad metabolizmu przebiegających z padaczką jest niezwykle istotna. Autorzy dokonują przeglądu wiedzy na temat wybranych, poddających się leczeniu wwm stanowiących przyczynę padaczki.

18

Stwardnienie rozsiane a padaczka – złożone zależności

75%

Waszczuk A., Rejdak K.

Aktualności Neurologiczne

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2015

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vol. 15

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issue 4

199-204

EN

Multiple sclerosis is one of the most common chronic neurodegenerative diseases of the central nervous system with autoimmune background. The prevalence of epileptic seizures in patients with multiple sclerosis ranges from 0.5% to 10%, while in the general population it ranges from 0.5% to 1%. Clinical studies have proved that all types of epileptic seizures may occur in the course of multiple sclerosis. Yet, it needs to be remembered that not all seizure symptoms are consistent with epileptic seizures. Non-epileptic seizures include tonic spasms (paroxysmal dystonias), paroxysmal akinesias and paresthesias, and trigeminal neuralgia. According to the literature of the subject, the majority of the available antiepileptic drugs have been broadly used for management of seizures in multiple sclerosis patients. However, there is a group of medications registered for multiple sclerosis treatment, that can in isolated cases slightly lower the seizure threshold thus causing or strengthening episodes of epileptic seizures. They include 4-aminopyridine and baclofen used for supportive therapy of multiple sclerosis, and according to some sources also immunomodulatory drugs such as interferon beta. The latest research has shown sodium channel blockers such as lamotrigine and phenytoin to potentially assist neuroprotection by inhibiting axonal degeneration that underlies the impaired mobility in multiple sclerosis patients. Additionally, phenytoin has found its application in the therapy of optic neuritis, also in the course of multiple sclerosis. Multiple sclerosis is indisputably a disease whose course eludes clear prognosis, whereas the coexistence of epileptic seizures and the clinical multiple sclerosis symptoms frequently poses both diagnostic and therapy-related challenges for the treating physicians.

PL

Stwardnienie rozsiane jest jedną z najczęściej występujących przewlekłych chorób neurodegeneracyjnych ośrodkowego układu nerwowego o prawdopodobnym podłożu autoimmunizacyjnym. Rozpowszechnienie napadów padaczkowych w grupie pacjentów chorujących na stwardnienie rozsiane waha się od 0,5% do ponad 10%. Z kolei w populacji ogólnej wskaźnik ten wynosi od 0,5% do 1%. Badania kliniczne dowodzą, że w przebiegu choroby mogą pojawić się wszystkie typy napadów padaczkowych. Jednocześnie należy mieć na uwadze fakt, iż nie wszystkie objawy napadowe odpowiadają napadom padaczkowym. Wśród niepadaczkowych zdarzeń napadowych wymienia się: skurcze toniczne (napadowe dystonie), napadowe akinezje i parastezje czy neuralgię nerwu trójdzielnego. Z informacji zawartych w literaturze wynika, że większość dostępnych leków przeciwpadaczkowych miała szerokie zastosowanie w leczeniu napadów u pacjentów ze stwardnieniem rozsianym. Jednakże istnieje grupa leków zarejestrowanych w terapii choroby, które w nielicznych przypadkach mogą nieznacznie obniżać próg drgawkowy i w ten sposób wywoływać lub nasilić epizody napadów padaczkowych. Są to 4-aminopirydyna i baklofen stosowane w leczeniu objawowym stwardnienia rozsianego, a według niektórych źródeł także leki immunomodulujące (interferon beta). Najnowsze badania dowodzą, iż leki działające poprzez blokadę kanałów sodowych (m.in. lamotrygina, fenytoina) mają potencjalny udział w neuroprotekcji poprzez zahamowanie aksonalnej degeneracji będącej główną przyczyną niepełnosprawności ruchowej pacjentów. Dodatkowo fenytoina znalazła zastosowanie w leczeniu zapalenia nerwu wzrokowego, również w przebiegu stwardnienia rozsianego. Stwardnienie rozsiane jest niewątpliwie schorzeniem, które przebiegu nie jesteśmy w stanie do końca przewidzieć, a jednoczesna koincydencja napadów padaczkowych i objawów klinicznych choroby niejednokrotnie stwarza lekarzom klinicystom trudności zarówno diagnostyczne, jak i lecznicze.

19

Nagły zgon sercowy a nagły zgon u chorych na padaczkę

75%

Mańka-Gaca I., Łabuz-Roszak B.

Annales Academiae Medicae Silesiensis

|

2019

|

issue 73

60-64

EN

Sudden unexpected death in people previously considered healthy represents an important challenge for modern medicine. The causes of this phenomenon are constantly being sought and attempts are being made to understand its pathomechanism. Among those at great risk are patients with epilepsy. Every unexpected death in a patient with epilepsy who was generally healthy in normal life activity and no other cause of the death was identified, is considered sudden unexpected death in epilepsy (SUDEP). Despite the difficulty in predicting sudden death, special attention should be paid to those at high risk, especially affected by cardiovascular diseases and epilepsy.

PL

Nagłe niespodziewane zgony u osób dotychczas uważanych za zdrowe stanowią istotne wyzwanie dla współczesnej medycyny. Wciąż poszukuje się przyczyn tego zjawiska i próbuje poznać jego patomechanizm. Wśród osób szczególnie narażonych znajdują się osoby chorujące na padaczkę. Każdy niespodziewany zgon u chorego na padaczkę, którego ogólny stan zdrowia był dobry, aktywność życiowa normalna i u którego nie znaleziono innej przyczyny chorobowej tego zdarzenia, określa się terminem nagłej niespodziewanej śmierci u chorych na padaczkę (sudden unexpected death in epilepsy – SUDEP). Pomimo trudności w przewidywaniu nagłych zgonów szczególnym nadzorem należy objąć osoby z grupy podwyższonego ryzyka, do których niewątpliwie należą chorzy z chorobami układu sercowo-naczyniowego oraz z padaczką.

20

Travel to altitude with neurological disorders

75%

Angelini C., Giardini G., Falla M.

Health Promotion & Physical Activity

|

2021

|

vol. 15

|

issue 2

29-39

EN

The present review examines several neurological conditions and the problems posed by travelling to high altitude, and in particular whether the underlying disease is likely to worsen. The neurological conditions include migraine and other types of headaches, transient ischemia of the brain, occlusive cerebral artery diseases, intracranial haemorrhage and vascular malformations, intracranial space occupying mass, multiple sclerosis, peripheral neuropathies, neuromuscular disorders, epileptic seizures, dementia and Parkinson’s disease. Attempts will be made to classify the risk posed by each condition and to provide recommendations regarding medical evaluation, advice for or against travelling to altitude and effective prophylactic measures. Some individual cases should only be advised after careful examination and risk evaluation either in an outpatient mountain medicine service or by a physician with knowledge of travelling and high altitude risks. Recent developments in diagnostic methods and treatment of neurological conditions are also mentioned.

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