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Časopis Neurology – Článok Genetic aspects of epilepsy – part i.: etiology of epilepsy and monogenic epileptic syndromes

Neurology

Reviewed, postgraduate scietific medical journal.
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné
Téma: Overview works

Genetic aspects of epilepsy - part i.: etiology of epilepsy and monogenic epileptic syndromes

Branislav Kollár, Petra Keményová, Pavel Šiarnik, Lucia Krížová, Zuzana Čarnická, Zoltán Goldenberg, Katarína Klobučníková

The current modern neurology has unequivocally identified itself with the view that epilepsy is actually rather a syndrome unit than a disease in itself. Etiology of epilepsy is not homogenous. Several factors may cause epilepsy. The genetic factors that may participate in the ethiopathogenesis of epilepsy have been the subject for research for several years. However, recently the genetics has become the mainstream of the epileptology research. Genetic research in the recent years shows the critical role of ion channels in the pathogenesis of epilepsy. Moreover, there is a gradual accumulation of monogenic epileptic syndromes. Identification of the accountable mutated genes and their gene products decreases the number of the so-called idiopathic epileptic syndromes. It may eventually form the background for the development of novel medicinal products and more effective treatment. Further research in this field may enable the advancement of new, directly focused therapeutic procedures in the future. In the first part of the article the authors deal with etiology of epilepsy and monogenic epileptic syndromes; the second part is devoted to the characterisation of idiopathic generalised and partial epilepsies.

epilepsy, genetic, ion channels
Neurológia 2012; 7 (2): 67-72

Ročník 2012  Témy časopisu Neurology 2 / 2012

Overview works

Branislav Kollár1, Igor M. Tomo2, Pavel Šiarnik1, Lucia Krížová1, Zuzana Čarnická1, Stanislav Šutovský1, Katarína Klobučníková1
Martin Melišek, Ján Vanko
Branislav Kollár, Petra Keményová, Pavel Šiarnik, Lucia Krížová, Zuzana Čarnická, Zoltán Goldenberg, Katarína Klobučníková
Peter Špalek
Slavomíra Kováčová, Miroslav Brozman

Case Studies

Natália Jankovičová, Vladimír Nosáľ, Ján Grossmann, Jozef Michalik, Egon Kurča
Eva Gregorovičová, Branislav Veselý, Marcela Malá, Miroslav Brozman
Ján Grossmann1, Jozef Michalík1, Štefan Sivák1, Gabriela Hollá2, Vladimír Nosáľ1, Egon Kurča1

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CHAIRMAN OF THE EDITORIAL BOARD
doc. MUDr. Miroslav Brozman, CSc.

MEMBERS OF THE EDITORIAL BOARD
MUDr. František Cibulčík, CSc.
doc. MUDr. Eleonóra Klímová, CSc.
doc. MUDr. Pavol Kučera, PhD.
MUDr. Marian Kuchar, PhD.
doc. MUDr. Robert Mikulík,Ph.D., FESO
MUDr. Vladimír Nosáľ, PhD.
MUDr. Ľubica Procházková, CSc.
prof. MUDr. Bruno Rudinský, CSc.
doc. MUDr. Daniel Šaňák, Ph.D.
doc. MUDr. David Školoudík, Ph.D., FESO
prof. MUDr. Karel Šonka, DrSc.
doc. MUDr. Peter Špalek, PhD.
Dr. Milan R. Voško, PhD.

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SECTIONS

OVERVIEW PAPERS
The latest knowledge on disease and disease groups aetiology, pathogenesis, diagnoses and therapy. Maximum size is 7 pages (font size 12, line spacing 1.5) with maximum 6 pictures (graphs). In case of more extensive theme elaboration it is possible to divide the paper to several parts after agreement with editorial office. Write the article with emphasis on its practical usage for neurologists.

CASE STUDY
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Diagnosis and therapy processed into tables and schemes, with minimum text, with emphasis on conciseness and clarity.

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APPENDIX - GENERAL MEDICINE
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MANUSCRIPT ELABORATION

Write the paper on computer in any common text editor.
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- - do not arrange text into columns
- - do not do page make-up, put tables at the end of the paper
- distinguish precisely numbers 1, 0 and letters l, O
- use always parentheses ( )
- explain abbreviations always when first used


MANUSCRIPT REQUIREMENTS

1. An accurate paper title, names and surnames of all authors including titles, authors` workplace. The first author address including the phone number, fax and e-mail address.
2. Summary - concise content summary in the extent maximum 10 lines (only at overview papers, case studies and Appendices - General Medicine). Write in 1st or 3rd person singular or plural (unify according the type of an article).
3. Key words - in the extent of 3-6 (only for overview papers and Appendices - General Medicine).
4. English translation: paper title, summary, key words (only at overview papers, and Appendices - General Medicine)
5. Text
If you insert pictures into a document, send also their original files in "jpg" format, create graphs in Excel and send also their original files. If you send photo documentation via post office, please, send just high-class originals. Mark each original by a number, under which it is mentioned in the text. Write in 1st or 3rd person singular or plural (unify according the type of an article).
6. Bibliography
Citations are numbered chronologically in bold, references in the text are stated by the number of citations in parentheses. Use maximum 20 citations.

Examples of citations:
1. Pitt B, et al. The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators. N Engl J Med 1999; 341: 709-717.
2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
5. Osborne BE. The electrocardiogram of the rat. In: Budden R, Detweiler DK, Zbinden G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Pergamon Press 1981: 15-27.

Do not use dots after first names in citations. Do not use colon but dot after names of authors. Use semi-colon after the year of publishing, colon is before pages. If an author is one, two or three - it is necessary to state all. If there are more than three authors it is necessary to write first three and "et all".

Due to publishing of autodidactic tests it is necessary to add 4 questions to your article and 4 answers with marking of one correct answer, e.g.:

Which of following factors is not related to rosacea?
a. genetic predisposition
b. Scandinavian origin
c. propionibacterium acnes
d. endothelial growth factor

The editorial board reserves the right to make small stylistic changes in the paper. If it is necessary to shorten the paper, the consent of the author will be required. All articles are reviewed.

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Due to practical focus of the journal we would like to ask you to write the paper comprehensively, with emphasis on practical use of provided information in out-patient neurological practice.

Send contributions in the e-mail to the address: stachova@amedi.sk
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné