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Genetics Aspects of Epilepsies and Recent Advances In Genetics of Idiopathic Epilepsies
Nerses BEBEK,Betül BAYKAN
Journal of Neurological Sciences , 2006,
Abstract: Distinct genetic inheritance patterns such as chromosomal disorders, single gene defects and complex inheritance underly epileptic syndromes. Genetic background of more than 200 diseases, which have other neurological and systemic findings accompanied by epilepsy are caused by single gene disorders. These syndromes constitute only 1% of the epilepsies. However, complex inheritance underlies the majority of idiopathic epilepsies in which seizures are the prominent clinical features. Due to the genetic and phenotypic heterogeneity, besides multiple genes interacting with environmental factors, the genetic etiology of common idiopathic epilepsies is undetermined yet. On the other hand, mutations in voltage or ligand gated ion channel genes are discovered in a few idiopathic epilepsy syndromes including autosomal dominant nocturnal frontal lobe epilepsy, benign familial neonatal convulsions, generalized epilepsy febrile seizures plus syndromes. These advances suggested epilepsies could be interpreted as channelopathies. In this review, the management of clinical and molecular approach to a patient with suspected genetic etiology and recent advances in the genetics of epilepsies are presented.
Response of the Authors to “Relations Between Absence Seizures and the Thalamus”
Zeynep Ayd？n ？ZEM？R,Betül Baykan
N？ropsikiyatri Ar？ivi , 2012,
Abstract: ...
Estimation of the soil strength parameters in Tertiary volcanic regolith (NE Turkey) using analytical hierarchy process
Bilgehan Kul,Hakan Ersoy,Idris Baykan,Melek Bet？？l Karsli,Robert L Parsons,Seda ？？ellek
- , 2013,
Abstract:
The Evaluation of The Agreements of Different Epilepsy Classifications in Seizures Recorded With Video EEG Monitoring
Babürhan GüLD？KEN,Betül BAYKAN,Necdet SüT,Nerses BEBEK
Journal of Neurological Sciences , 2012,
Abstract: Objective: The main purpose of the epilepsy classifications is to guide physicians to get the correct diagnosis and subsequently select the appropriate treatment. When using the daily classifications, the diagnosis and treatment of some patients sometimes remain unsatisfying, and video EEG monitoring (VEM) is the alternatively applied diagnostic tool in such patients. In the present study, the agreement of different classifications before and after short term VEM is investigated.Methods: Three hundred ninety-one patients who had undergone VEM were enrolled in the study. Forty-five cases, whose epileptic seizures could be recorded, were classified before and after VEM according to 1981 Classification of Epileptic Seizures, 1989 Epileptic Syndrome Classification, 2010 Seizure and Electroclinical Syndrome Classifications proposed by International League Against Epilepsy (ILAE) Commission on Terminology and Classification, and Semiological Seizure Classification reported by Luders et al. in 1998.Results: The intra-observer agreements of Semiological Seizure, 1989 and 2010 Electroclinical Syndrome Classifications were found to be substantial, whereas those of 1981 and 2010 Epileptic Seizure Classifications were moderate. The initial clinical diagnosis was changed in 44.7% to 56.5% of patients where a change of treatment was needed in 36.5% of the cases.Conclusion: While the Semiological Seizure Classification appears to be more consistent than the 1981 and 2010 Seizure Classifications, the impact of short term VEM on the accurate classification is remarkable.
Prognosis and Clinical Features of Idiopathic Generalised Epilepsy Patients Older Than 40 Years
Zeynep AYDIN ？ZEM？R,Betül BAYKAN,Candan GüRSES,Nerses BEBEK
Journal of Neurological Sciences , 2012,
Abstract: Introduction: Idiopathic generalised epilepsies (IGE) are usually seen in the first two decades of life. There is a paucity of data of these patients when they get older.Methods: Patients admitted to our epilepsy center were screened for being older than 40 years at the time of last admission and being diagnosed with IGE according to ILAE-1989 criteria. The clinical features, syndromes and prognosis of 33 patients meeting the inclusion criteria were evaluated retrospectively.Results: Nineteen (58%) were female and mean age was 50,24±10,29. 16 cases had juvenile myoclonic epilepsy, 7 juvenile absence epilepsy, 4 childhood absence epilepsy, 2 IGE with generalised convulsive seizures (GCS), 3 atypical IGE with absence status epilepticus (ASE), 1 late onset IGE. 19 patients were using monotherapy whereas 13 were using polytherapy, and there is only one case without medication. The prognosis was evaluated as good in 54.5% (n:18) and as poor in 45.5 % (n: 15). Absence of family history of epilepsy, male gender were related with good prognosis without statistical significance. Prognosis was observed as better in the co-existence of myoclonia and GCS and in the group with GCS only, whereas the existence of absence seizures and frequent ASE were associated with poor prognosis.Conclusions: Almost half of the IGE patients older than 40 years had poor prognosis and should be followed up closely. It is remarkable that this group consists of well-known IGE syndromes diagnosed earlier rather than being late onset and also includes atypical patients experiencing frequent ASE.
Peri
Betül Baykan,Candan Gürses,Emel Oguz Akarsu,Erdi ？ahin,Nerses Bebek,Sevda Ozel Yildiz
- , 2018, DOI: 10.1177/1550059417733385
Abstract: Introduction. Sudden unexpected death in epilepsy (SUDEP) is a major cause of death in patients with chronic drug-resistant epilepsy, and peri-ictal prone position has been elucidated as a risk factor for SUDEP. We aimed to investigate consecutive patients in peri-ictal prone positions in our video EEG monitoring (VEM) unit and compare patients with and without peri-ictal prone position to emphasize its relationship with other independent risk factors for SUDEP. Methods. We retrospectively screened all patients with peri-ictal prone position who underwent VEM for a 10-year period and these patients constituted the prone (+) group. All patients without peri-ictal prone position who underwent VEM in the past 2 years constituted the prone (？) control group. Sequences of peri-ictal positions and interventions were evaluated. Clinical and laboratory features and SUDEP-7 scores were compared between the groups. Results. A total of 21 seizures were identified with peri-ictal prone position from 16 patients. SUDEP-7 scores were significantly higher in the prone (+) group. Longer duration of epilepsy, early age at seizure onset, mental retardation, and frequency of seizures of any type (>50 seizures per month for the past year) were found significantly different between the prone (+) and prone (？) groups. Conclusion. Peri-ictal prone position in the VEM unit may relate with other independent risk factors of SUDEP, especially with mental retardation. Nocturnal supervision becomes important to reduce SUDEP risk, especially in patients with mental retardation
The Characteristics and Long
Betül Baykan,Bülent Kara,Can Baykal,Candan Gürses,Emel Oguz Akarsu,Firdevs Din？soy Bir,Nerses Bebek,Oya Uyguner,Volkan Ta？demir
- , 2018, DOI: 10.1177/1550059417705280
Abstract: Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of epilepsy in this genodermatosis. Four of them had seizures (57.1%), and focal seizures with motionless staring were the most common seizure phenotype, originating from bilateral mesial temporal areas, but interictal spikes were scant. Auras were observed in three patients, mostly as epigastric sensation and déjà vu, which indicated mesial temporal lobe origin. Three patients with homozygous mutations in sixth and seventh exons of the ECM1 gene had a drug-resistant course at the end of long-term follow-up. Molecular genetic testing showed a rare compound heterozygous mutation in one patient, which was also associated with seizures but without drug-resistance. Our findings indicated a spectrum for epilepsy with a desperate drug-resistant course for decades in most patients with LP, which is still an underrecognized disease by neurologists
An Overview of Etiopathogenesis of Acne Vulgaris
Ay？egül BAYKAN,Emin ？ZLü
- , 2018,
Abstract: Acne vulgaris is a chronic inflammatory disease that primarily affects the pilosebase unit. Acne vulgaris remains one of the commonest diseases to afflict humanity, with prevalence up to 90% during adolescence. Relatively little is known about its epidemiology despite the fact that acne is a universal condition in younger population. This disease is more common in developed countries than in less industrialized regions of the world. The etiopathogenesis of acne is multifactorial. Sebum production, follicular epithelial keratinization, bacterial proliferation, and inflammation play significant role in etiopathogenesis. Recent studies shown that toll like receptors and antimicrobial peptides play a role in the pathogenesis of acne vulgaris. The relationship between diet and acne is highly controversial. Strong evidence shows that high glycemic loads diet may exacerbate acne. In addition, the factors contributing to the formation of acne also include genetic predispositions, hormonal abnormalities, psychological, environmental and iatrogenic factors. The disease is mainly observed face, chest, back and shoulders. When acne is untreated, it may cause social isolation, difficulty in finding jobs, depression and suicide attempt as a result of emotional and physical scar formation. In this article, the epidemiology and etiopathogenesis of acne are overviewed
Drug Extravasation in Pediatric Oncology: Single Center Experience
Betül Sevinir
Güncel Pediatri , 2008,
Abstract: Aim: The frequency of cytotoxic chemotherapy extravasation is uncertain. The aim of this study was to determine extravasation frequency and to verify the risk factors in our center.Materials and Methods: Hospital records of pediatric oncology patients at Uluda University Faculty of Medicine, Department of Pediatric Oncology between 2004-2007 were reviewed retrospectively. Number of the cases with chemotherapy extravasation, diagnosis, demographic and clinical features were recorded. Results: The incidence of cytotoxic drug extravasation in pediatric oncology cases was 0.4%. Forty-one percent of extravasations were observed in patients under 3 years The median extravasation time was 9th week of the chemotherapy. Most of the extravasation injuries were seen in outpatient clinic (77%) and mainly in cases who were having therapy weekly (59%). The most frequent site of extravasation was dorsal hand (82%). Causative drugs were vinca alkaloids, doxorubicin and dactinomycin.Conclusion: The incidence of chemotherapy induced extravasations were similar with literature. Young age and weekly chemotherapy were major risk factors in pediatric oncology cases. (Journal of Current Pediatrics 2008; 6: 1-4)
READING TURKISH MODERNIZATION THROUGH WOMEN NOVELS -From the Reform to the Republic- TüRK MODERNLE MES N KADIN ROMANLARI üZER NDEN OKUMAK -Tanzimat’tan Cumhuriyet’e-
Betül CO？KUN
Turkish Studies , 2010,
Abstract: The Western Culture, which entered every phase of the Ottoman life after the Reform, also brought the question of the place of women in a society. Woman is seen as one of the most significant phases of modernization by the Reform Intellectuals. The idea that a new and modern society can only be formed by new and modern mothers had been a common thesis of the literary works until the proclamation of the Republic. In this stage, the female novelists, whose number was increasing, in their works dealt with the issues of modernizing women in detail. The modernization of women, and thus the stages that a society has while having process of westernization is traced through the women characters in women novels. In this work, we will analyze women modernization through characters and contexts in the novels written by female writers during the process reaching from the Reforms to the Republic. Tanzimat’tan sonra Osmanl hayat n n her safhas na giren Bat kültürü, toplum i erisinde kad n n yerinin sorgulanmas n da beraberinde getirir. Kad n, Tanzimat ayd n taraf ndan modernle menin en nemli a amalar ndan biri olarak g rülür. Yeni ve modern toplumun ancak yeni ve modern anneler taraf ndan kurulabilece i fikri, Cumhuriyet’in ilan na kadar edebi eserlerin ortak tezlerinden biri haline gelir. Bu safhada say s artan kad n romanc lar, modernle en kad n n meselelerini teferruatl bir ekilde ele al rlar. Kad n n modernle mesi, dolay s yla toplumun Bat l la rken ge irdi i safhalar, kad n romanlar ndaki kad n kahramanlar üzerinden takip edilebilir. Biz bu al mam zda Tanzimat’tan Cumhuriyet’e uzanan süre te kad n yazarlar taraf ndan kaleme al nan romanlarda, kad n modernle mesinin hangi karakterler üzerinden ve hangi meseleler ba lam nda ele al nd n inceleyece iz.
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