Faculty of Medicine

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    EXPANDING THE NEUROLOGICAL SPECTRUM OF VAN MALDERGEM SYNDROME: EPILEPSY WITH MYOCLONIC SEIZURES.
    (Macedonian Neurological Society, 2025-10)
    Mechkaroska Blazheska, Elena
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    Babunoska, Marija
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    Boshkovski, Bojan
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    Kostovska, Irena
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    EPILEPSY WITH HETEROZYGOUS ALDH7A1 AND SLC6A1 MUTATIONS
    (SHMSHM - AAMD, 2020)
    Alili Ademi, Learta
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    Ademi, Blerim
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    Muaremoska Kanzoska, Lejla
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    ABSTRACT Epilepsy is one of the most common neurologic disorders, 75% of which begins during childhood. With the development of genetic technology, an increasing number of genes associated with epilepsy are identified. These discoveries will improve diagnosis and treatment of epilepsy and provide the basis for including genetic tests in clinical practice. We report cases of epilepsy in two sisters with heterozygous mutations in ALDH7A1 and SLC6A1 gene. Including genetic tests in the clinical practice and evaluating the results of genetic tests with the goal to better characterize the association between genes and epilepsies and to further understand the mechanisms of underlying epilepsy. The variant c.-17C>G, in 5-UTR of ALDH7A1 and c.1436G>A (p.Arg479Gln) in exon 14 of SLC6A1 gene are mutations classified as a mutations with unknown clinical meaning. The presence of variants with unknown clinical meaning should not be neglected and should not affect the clinical course and treatment.
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    Widespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum
    (Wiley Online Library, 2019-10)
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    Kuzmanovski Igor
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    Boskovski Bojan
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    Babunovska Marija
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    Focal cortical dysplasia (FCD) type II and hemimegalencephaly (HME) are currently considered as a continuum of pathology, the most important distinction being the extent or the size/volume of the lesion. While partial HME involving the posterior cortex has been well described, we present an unusual case with a dysplastic lesion of the whole frontal lobe. A 17-year-old boy had focal seizures from the age of nine years. Apart from diminished right-hand dexterity, his neurological and cognitive status were unremarkable. The course of his epilepsy exhibited a relapsing-remitting pattern, with prolonged periods of remission. Imaging showed dysplastic left frontal lobe (including paracentral lobule) thickened cortex with an abnormal gyration pattern resembling polymicrogyria, as well as dystrophic calcifications and hypodensity scattered throughout the white matter. This patient represents an intermediate case within the FCD type II/HME spectrum. Localization of the lesion in the frontal lobe as well as clinical characteristics (childhood onset, relapsing-remitting epilepsy, without hemiparesis and overt cognitive impairment) are more consistent with FCD type II, while a range of MRI features is shared between HME and FCD type II.
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    Micturition and startle-induced reflex seizures in a patient with focal cortical dysplasia in the middle frontal gyrus
    (Elsevier, 2019-01)
    Cvetkovska Emilija
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    Babunovska Marija
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    Kuzmanovski Igor
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    Boskovski Bojan
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    Current trends in epileptology: priorities, challenges, tasks and solutions
    (2019-11)
    Avakyan G.N.
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    Belousova E.D.
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    Burd S.G.
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    Vlasov P.N
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    Ermolenko N.A.
    Within a field meeting of experts from the Russian branch of the League Against Epilepsy (RLAE), diagnostic and treatment aspects of epilepsy were discussed with the emphasis on the female population (girls, women of childbearing and older ages). All experts underscored the special features and unique needs of female patients with epilepsy. Experimental and clinical studies on efficacy and safety of traditional and novel antiepileptic drugs (AEDs) applied to women with epilepsy were discussed. It was commonly agreed that the new generation of AEDs did not yet find an appropriate place in the clinical practice, and that they were mainly used as add-on therapy in order to overcome drug resistance. The current use of AEDs in the treatment of epilepsy is, by large, not gender-specific and is not related enough to age, sociodemographic characteristics, and comorbid disorders. It should be noted that the new AEDs are addressed specifically to individual, socio-demographic, gender and clinical features of the patient. The potential of some AEDs (lamotrigine), in fact, remains underestimated by practitioners. Due to the current restrictions in using valproic acid, lamotrigine is the alternative medication for women with epilepsy. Having a balanced profile of efficacy and safety, lamotrigine is recommended as the first choice drug for initial therapy, as well as an alternative monotherapy for epilepsy in women.
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    Proton Magnetic Resonance Spectroscopy of Brain (H-MRS) in patient with temporal lobe epilepsy
    (League against Epilepsy of Macedonia, 2016)
    Chepreganovska-Changova, Tatjana
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    Kuzmanovski, I
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    Boshkovski, Bojan
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    Item type:Publication,
    Proton Magnetic Resonance Spectroscopy of Brain (H-MRS) in patient with temporal lobe epilepsy
    (League against Epilepsy of Macedonia, 2016)
    Chepreganovska-Changova, Tatjana
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    Kuzmanovski, I.
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    Boshkovski, Bojan
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    Jovanovski-Srceva, Marija
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    Legal Issues of Patients with epilepsy - a 5 year study
    (League against Epilepsy of Macedonia, 2016)
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    Kedeva, K
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    Chavdar, K
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    Intracerebral hemorrhage and epileptic seizure : frequency, localization and seizure types
    (Македонско лекарско друштво = Macedonian Medical Association, 2017-07)
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    Taravari, Arben
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    Coskun, Kerala
    Introduction. Among 2.8-18.7% of the patients that suffered from spontaneous intracerebral hemorrhage (ICH) develop seizures. Previous studies suggest that most important contributors to developing subsequent seizures are: volume and localization of hematoma, cortical involvement and age. Aims: To determine the occurrence of new epileptic seizures in patients with spontaneous intracerebral hemorrhage and to analyze it with respect to the patient’s age, gender, presence of premorbid risk factors, localization of the hematoma and the type of the seizures. Methods. This study is retrospective in design, with study population of 308 patients with spontaneous intracerebral hemorrhage admitted to our clinic in the period between 2008 and 2014. Analyzed premorbid risk factors for ICH are: hypertension, smoking, alcohol uptake. According to the computer tomography (CT) of brain findings the patients was divided in two groups: lobar and thalamic (deep). By the time of presents of seizures, they were classified as early (within 1 week of ICH) or late (more than 1 week after ICH). Also we analyzed the seizures type and we divided them in four groups: simple partial, partial complex, secondary generalized and tonic clonic generalized seizures. Results. Arterial hypertension was revealed in 78% of the patients with spontaneous supratentorial ICH. Epileptic seizures developed in 8.2% of analyzed patients, most of them in the first week of brain bleeding. Lobar ICH had 78.6% of the patients, with frontal localization was 44% of patients with lobar ICH, and most of them had simple partial and partial complex seizures. Conclusion. Cortical involvement, large volume of hematoma, may be a factor for provoked seizures, especially in the first days of brain bleeding.