Search

Objective: De novo missense variants in KCNQ5, encoding the voltage gated K+ channel KV7.5, have been described as a cause of developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-related KCNQ5 variants in genetic generalized epilepsy (GGE) and their underlying mechanisms. Methods: 1292 families with GGE were studied by next-generation sequencing. Whole-cell patch-clamp recordings, biotinylation and phospholipid overlay assays were performed in mammalian cells combined with docking and homology modeling. Results: We identified three deleterious heterozygous missense variants, one truncation and one splice site alteration in five independent families with GGE with predominant absence seizures, two variants were also associated with mild to moderate ID. All three missense variants displayed a strongly decreased current density indicating a loss-of-function (LOF). When mutant channels were co-expressed with wild-type (WT) KV7.5 or KV7.5 and KV7.3 channels, three variants also revealed a significant dominant-negative effect on WT channels. Other gating parameters were unchanged. Biotinylation assays indicated a normal surface expression of the variants. The p.Arg359Cys variant altered PI(4,5)P2-interaction, presumably in the non-conducting preopen-closed state. Interpretation: Our study indicates that specific deleterious KCNQ5 variants are associated with GGE, partially combined with mild to moderate ID. The disease mechanism is a LOF partially with dominant-negative effects through functional, rather than trafficking deficits. LOF of KV7.5 channels will reduce the M-current, likely resulting in increased excitability of KV7.5-expressing neurons. Further studies on a network level are necessary to understand which circuits are affected and how the variants induce generalized seizures.

Coronavirus disease 2019 (COVID-19) can be spread rapidly and can be seen in a wide section of society at any age, affecting the whole society, as well as patients with epilepsy. A virus may cause neurological involvement, as well as systemic involvement. There is no evidence that COVID-19 disease triggers or worsens existing epileptic seizures. Seizures can be triggered secondary to the disease. Likewise, it is understood that individuals with epilepsy are not more likely to contract COVID-19 disease, and have not had the disease more seriously. Unless there are additional problems that pose a risk for COVID-19, the antiepileptic drugs used by patients do not pose a risk for infection. When it is necessary to use hydroxychloroquine, azithromycin and similar drugs in the treatment of COVID-19, antiepileptic treatment is recommended to be reviewed and properly regulated. Conditions, such as the use of cold medicines can increase the risk of seizures due to the pseudoephedrine they contain, and the risk of infection with immunomodulating drugs should be specially addressed. The risk of contamination is highest in places like hospital units, especially emergency units. Therefore, measures should be taken to prevent situations that may lead to the unnecessary application of people to the hospitals and the emergency units. During the epidemic period, individuals will try to obtain information using media, social media and websites. That is why it is crucial for health institutions and authorities to provide accurate information and guide the people during the epidemic. Informing people will allow patients to see the risks of the COVID epidemic more accurately and help prevent unnecessary anxiety.

Elmali, Ayse Deniz/0000-0001-6380-9550 WOS:000560002600002 Coronavirus disease 2019 (COVID-19) can be spread rapidly and can be seen in a wide section of society at any age, affecting the whole society, as well as patients with epilepsy. A virus may cause neurological involvement, as well as systemic involvement. There is no evidence that COVID-19 disease triggers or worsens existing epileptic seizures. Seizures can be triggered secondary to the disease. Likewise, it is understood that individuals with epilepsy are not more likely to contract COVID-19 disease, and have not had the disease more seriously. Unless there are additional problems that pose a risk for COVID-19, the antiepileptic drugs used by patients do not pose a risk for infection. When it is necessary to use hydroxychloroquine, azithromycin and similar drugs in the treatment of COVID-19, antiepileptic treatment is recommended to be reviewed and properly regulated. Conditions, such as the use of cold medicines can increase the risk of seizures due to the pseudoephedrine they contain, and the risk of infection with immunomodulating drugs should be specially addressed. The risk of contamination is highest in places like hospital units, especially emergency units. Therefore, measures should be taken to prevent situations that may lead to the unnecessary application of people to the hospitals and the emergency units. During the epidemic period, individuals will try to obtain information using media, social media and websites. That is why it is crucial for health institutions and authorities to provide accurate information and guide the people during the epidemic. Informing people will allow patients to see the risks of the COVID epidemic more accurately and help prevent unnecessary anxiety.

WOS: 000486138900009 Amyotrophic lateral sclerosis is a neurodegenerative disease with progressive motor neuron degeneration in primary motor cortex, corticospinal pathways, brain stem and spinal cord. The disease may start with asymmetrical weakness in the arms and legs, hyperreflexia, myolysis, cramps, twitching, fatigue, difficulty in speech and swallowing, emotional lability due to upper and lower motor neuron involvement. Sleep disorders may occur generally during the course of the disease in amyotrophic lateral sclerosis. Here a case of amyotrophic lateral sclerosis presenting with excessive daytime sleepiness was presented.

WOS: 000438303700004 Objectives: Sudden unexpected death in epilepsy (SUDEP) is attributed to peri-ictal cardiopulmonary abnormalities. In the present study, epilepsy patients on monotherapy (carbamazepine [CBZ], oxcarbazepine [OXZ], valproic acid [VPA]) were compared with a healthy control group to investigate the effects of epilepsy and various antiepileptic drugs on QTmax, QTmin, and QTd. Methods: Seventy eight (51.3% females) epilepsy patients with a mean age of 32.7 +/- 11.4 (range, 17-63) years and 71 (56.3% female) healthy subjects with a mean age of 36.3 +/- 13.6 (range, 18-64) years participated in the study. The shorter and longer QT were measured by electrocardiography (ECG) and then differences between them (QTd) were calculated. SPSS for Windows 21.0 package software was used to compare the findings between groups. Results: QTmin (p

WOS: 000426503600014 The color change in urine may result from various factors such as drugs, stains, foods, infections, metabolic diseases and structural abnormalities. When Status Epilepticus can not be controlled with the benzodiazepine and at least one antiepileptic drug treatments, it is defined as refractory status epilepticus. Propofol, which is a drug that may be used for the treatment of refractory status epilepticus. We present a 28-year-old male with refractory status epilepticus who experienced a color change in urine to green due to propofol infusion. Green urine discoloration is a benign and very rare side effect of propofol.

In this study, identification of epilepsy prevalence, epilepsypatients’ demographical data and epilepsy risk factors in the Adanacity centre is aimed. Methods: This is a community-basedcross-sectional study, and by using “proportional stratifiedsampling method”, target population of 7052 people was identifiedwith considering Adana city center population. Three districts,reflecting general socioeconomic status, are identified by usingrandom sampling method. One doctor and two pollsters filled surveyforms by face to face interviews. When the target population of 7052people was reached, the study was terminated. Pre-diagnosed epilepsypatients and participants who are more likely to be diagnosed withthe epilepsy in the future, because of their history features, areinvited to our clinic for further surveys and investigations.Results: Out of 7052 participants who were face to faceinterviewed, 3577 of them were male (50,7%) and 3475 were female(49,3%). 52 of the participants were epilepsy patients and activeprevalence of the epilepsy was found as 0,7%. 31 of the 52 patientswere male (59,6%), 21 of the 52 patients were female (40,4%).Prevalence of the epilepsy in the high, medium and low socioeconomicstatus districts were 0,3%, 0,7% and 1,4% respectively. As thesocioeconomic level decreased, the prevalence of epilepsy increasedand the results were statistically significant. (p, Bu çalışmada, Adana il merkezinde epilepsi prevalansı, hastalarındemografik verileri ve epilepsi gelişimindeki risk faktörlerininbelirlenmesi amaçlanmıştır. Gereç ve yöntem: Çalışma,toplum temelli kesitsel olarak planlandı ve Adana il merkezi nüfusuüzerinden ‘'orantılı tabakalı örneklem yöntemi'' kullanılarakhedef nüfus 7052 kişi olarak belirlendi. Toplumun, sosyoekonomikdüzeyini yansıtacak şekilde rastgele örneklem yöntemi ile üçmahalle belirlendi. Hazırlanan anket formları bir doktor ve ikianketör tarafından yüz yüze görüşme yöntemi ile dolduruldu.Hedef nüfus olan 7052 kişiye ulaşıldığında çalışmasonlandırıldı. Daha önceden epilepsi tanısı almış olan veyaöykü özellikleri ile epilepsi olabilecek olan grup, hazırlanandiğer anket formlarının doldurularak ileri tetkiklerin yapılmasıiçin kliniğimize davet edildi. Bulgular: Anket formudoldurulan 7052 kişinin, 3577'si erkek (%50,7), 3475'i (%49,3)kadındı. Taranan nüfus içerisinde 52 kişi epilepsi olaraktanındı ve aktif epilepsi prevalansı %0,7 olarak bulundu.Epilepsi tespit edilen grubun 31'i (%59,6) erkek 21'i (%40,4) isekadındı. Sosyoekonomik durumu yüksek olan mahallede prevalans %0,3sosyoekonomik durumu orta düzeyde olan mahallede %0,7 vesosyoekonomik durumu düşük olan mahallede ise prevalans %1,4olarak bulundu. Sosyoekonomik düzey düştükçe, epilepsiprevalansında artış saptandı ve bulgular istatiksel olarakanlamlı bulundu (p

WOS: 000438988100007 Priapism is defined as a prolonged and persistent, painful erection of the penis without sexual stimulation. There have been a few case report of priapism resulting from the use of sodium valproate and topiramate. In our case, a 15-year-old male patient with partial seizures was treated with levetiracetam 1000 mg/day. Stuttering priapism was reported in the first week of treatment, which improved with drug withdrawal. To the best of our knowledge, there is no case report of a similar complication with levetiracetam.

WOS: 000410796000006 Today, due to the rapid progress of the global industrial economy, the use of new technologies and the economic competition environment, the necessity of 24 hour interrupted job production has increased and this has caused the obligation to work with the shift system. Approximately 20% of the population is working on shifts and turns apart from the standard working hours. While the shift system has many positive effects on work and manufacture life, it also has negative effects on the life quality of employees and it brings many comorbid health and sleep problems. Shift work sleep disorder is categorized as a subgroup of circadian rhythm sleep disorders family. The primary symptoms of shift work sleep disorder are insomnia and excessive daytime sleepiness. The goal of shift work sleep disorder treatment is to improve the quality of life and work efficiency while improving the current symptoms related to sleep disturbances, and to minimize accidents by increasing attention and alertness. The goal of this review is to determine the clinical findings, diagnostic criteria, systemic outcomes, and treatment methods of shift work sleep disorder and the associated sleep disorders.

Reflex epilepsies are induced by specific stimulants. Stimulants could be simple or complex as well as from intrinsic or extrinsic sources. The prevelance of reflex epilepsies among epilepsy patients is 4-7%. The most common form is photosensitive epilepsy. The treatment is composed of primarily avoidance from the inducer and usage of antiepileptic drugs., Refleks epilepsiler, spesifik uyaranlarla tetiklenen nöbetlerdir. Uyaranlar basit ya da kompleks olabileceği gibi intrinsek veya ekstrensek kaynaklı olabilir. Epilepsili hastalar arasında refleks epilepsilerin prevalansı % 4-7 dir. En sık görülen tipini fotosensitif epilepsiler oluşturmaktadır. Tedavide öncelikle uyaranlardan kaçınmak yanı sıra antiepileptik ilaçların da kullanılması gerekebilir.

WOS: 000390945000007 Progressive myoclonic epilepsies are a devastating group of rare disorders. The case of a young man who presented with a late-diagnosed nephrotic syndrome, progressive myoclonic seizures with action myoclonus, is described in the present report. He was the fifth child of a consanguineous marriage, and there was no familial history of nephrotic syndrome or end-stage renal failure. Renal biopsy showed focal segmental glomerulosclerosis with collapsing glomerulopathy. The patient died at 25 years of age in a context of end-stage renal function consistent with nephrotic syndrome.

29th International Epilepsy Congress -- AUG 28-SEP 01, 2011 -- Rome, ITALY WOS: 000294217200070 …

Fibromuscular dysplasia (FMD), which usually affects middle-aged and older women, is a non-atheromatous and non-inflammatory angiopathy. Definitive diagnosis is made only by angiography showing classic string-of-beads appearance. In this article, we present a patient with acute ischemic stroke due to FMD who was successfully treated with thrombolytic therapy as well as to revise the approach to FMD in the light of the literature.

ÖZET Juvenil Myoklonik Epilepsilerde; Klinik, Nörofîzyolojik ve Nörogörüntüleme Yöntemleri Bu çalışmada, juvenil myoklonik epilepsi (JME) tanısı ile izlenen olgularda klinik ve elektrofizyolojik bulgular ile prognozu etkileyen faktörler araştırılmıştır. Çalışmaya yaş ortalaması 22 (16 - 37) olan; 23 kadın, 9 erkek toplam 32 olgu alınmıştır. Tüm olgularda tedavi öncesi ve sonrası EEG, MRI ve SPECT incelemeleri yapılmış olup, düzenli aralıklarla ortalama 5.04 + 2.47 (1.5 -12) yıl takipleri yapılmıştır. Nörolojik muayenelerinde sadece 3 (% 9.37) olguda ılımlı mental retardasyon saptanmıştır. Nöbetler 8'inde 1 1 yaş altında, 9'unda 12-14 yaşlar arasında, 15'inde ise 15 yaş üstünde başlamıştır. Nöbet süreleri ortalama 8 (2-20) yıldır. Olguların % 69'unda myoklonik, absans ve jeneralize tonik klonik (JTK), % 25'inde myoklonik ve JTK, % 6'sında ise myoklonik ve absans nöbet tipleri birlikte görülmüştür. Etyolojik araştırmada kafa travması (% 40.7) ve febril konvülsiyon (% 22) anamnezde en sık saptanan olası faktörler olarak göze çarpmıştır. Tedavi öncesi EEG incelemesinde; % 69 aktif subkortikal epileptik aktivite bozukluğu, % 6 subkortikal yavaş aktivite paroksizmleri, % 19 oranında ise fokal anormallik görülmüştür. Normal EEG bulguları olguların sadece % 6'sında saptanmıştır. Tedavi sonrasında aktif subkortikal epileptik aktivite bozukluğunda anlamlı düzelme bulunmuştur (p< 0.0001). MRI incelemelerinde olguların 2'sinde araknoid kist (sol temporal, sol pontoserebellar), 2 olguda serebral atrofi, 2 olguda ventriküler genişleme, 1 olguda sağ globus pallidusta gliotik odak belirlendi. İnteriktal SPECT'te % 47 (n:15) olguda fokal (frontal, paryetal, temporal, oksipital) ya da multilfokal (paryeto-oksipital, diffüz kortikal, bilateral fronto paryetal, sol fronto paryetal) hipoperfüzyon saptandı. EEG, MRI ve SPECT anormallikleri arasında anlamlı korelasyon görülmedi. Monoterapinin yeterli olduğu grupta prognozun en iyi olduğu, tedavinin politerapi ile devam edildiği olgularda nöbetlerin kısmen kontrol altına alınabildiği (p:0.034) ve nöbetlerin 12-14 yaşlar arasında başladığı grupta prognozun daha iyi olduğu dikkati çekti. Etyolojik nedenlerin hiçbirinin prognoza etkisi olmamakla birlikte mental retardasyon saptanan 3 olguda nöbetlerin kısmen kontrol altına alındığı gözlemlendi. MRI anormalliği (p

Vardiyalı Çalışanlarda Uyku Kalitesi ve Parasomni SıklığıAmaç: Bu çalışmanın amacı; gece vardiyasında çalışanların uyku kalitelerini, vardiyalı çalışmaya bağlı ortaya çıkan uyku bozukluklarının sıklığını, özelliklerini ve özellikle parasomni görülme sıklığını belirlemek ve gündüz vardiyasında çalışanların uyku özellikleri ile karşılaştırmaktır. Yöntem: Bu çalışmaya Adana merkezinde 3 farklı alanda (sağlık, güvenlik ve işçi) vardiyalı (% 78,5) ve sadece gündüz (% 21,5) mesaisinde çalışan 1473 kişi dahil edilmiştir. Araştırmada veri toplama aracı olarak 132 soru içeren bir anket formu kullanılmıştır. Anket formunun içerisinde kişinin gündüz aşırı uykululuğunu değerlendiren Epworth Uykululuk Ölçeği, son bir ay içerisindeki uyku kalitesini değerlendiren Pittsburgh Uyku Kalitesi Ölçeği, major depresyon bulgularını belirlemek için Birinci Basamak İçin Beck Depresyon Ölçeği, obstruktif uyku apnesi riskini belirlemek için Berlin anketi bulunmaktadır. Bulgular: Çalışmaya katılanların % 24,4' ünde parasomni saptandı. Parasomni vardiyalı çalışanların % 27,5 inde görülürken, sadece gündüz vardiyasında çalışanların ise % 13'ünde belirlendi (p

ÖZETEpilepsi Tanılı Hastalarda Huzursuz Bacaklar Sendromu SıklığıAmaç ve kapsam: Huzursuz bacaklar sendromu, özellikle akşam dinlenme saatinde veya uykuya dalış sırasında ekstremitelerde büzülme, hoş olmayan his sonrası özellikle bacakların karşı konulamaz nitelikte hareket ettirilmesi olarak tanımlanır. Huzursuz bacaklar sendromu prevelansı toplumlara ve kronik hastalıklara göre farklılıklar göstermekedir. Farklı toplumlarda % 0,6-29, kronik hastalıklarda ise % 2,2-26,6 arasında değiştiği bildirilmiştir. Çalışmamızda, kronik bir hastalık olan epilepsi hastalarında HBS sıklığını belirlemeyi amaç edindik. Gereç ve yöntem: Araştırmaya Nöroloji Anabilim Dalı Epilepsi polikliniğinde takip edilen yaş ortalaması 33,3±12,3 (17-77) olan % 61,8 (n: 139)'i kadın, % 38,2 (n: 86)'si erkek olan toplam 225 epilepsi hastası çalışmaya dahil edilmiştir. Çalışmaya dahil edilen hastalarda, tanı kriterleri doğrultusunda huzursuz bacaklar sendromu (HBS) sorgulandı ve hastalara HBS şiddet değerlendirme ölçeği, Pitsburg uyku kalitesi indeksi (PUKİ) ve Epworth uyku kalite indeksi envanterleri verildi. Ayrıca HBS etyolojsinde rol aldığı düşünülen serum ferritin düzeyi, tiroid fonksiyonları, B12 ve folik asit düzeyleri bakıldı. Çalışmanın istatistiksel analizi SPSS 17.0 paket program sürümü kullanılarak yapılmıştır. Bulgular: Çalışmaya dahil edilen 225 hastada HBS sıklığı % 5,8 (n= 13) olarak belirlendi. HBS dışında hastaların % 50,2'inde horlama, kabus, uykuda periodik bacak hareket bozukluğu, bruksizm gibi diğer uyku bozukluklarına ait yakınmaları olduğu belirlendi. Çalışmaya dahil edilen hastaların % 37,3 (n= 84)'ünün politerapi, % 62,7 (n= 141)'sinin monoterapi aldığı saptandı. Hastaların % 74,6 (n= 168)'sında serum ferritin düzeyi 50 ng/mL'nin altında, % 9,8 (n= 22)'inde vitamin B12 düzeyi ise normal değerin altındaydı. PUKİ değeri hastaların % 5,3 (n= 12)'ünde 5,5'in üstünde, Epworth uykululuk skalasının hastaların % 11,1 (n= 25)'inde ? 8 olduğu bulundu. Epilepsi hastalarının uyku özellikleri irdelendiğinde; kadın hastaların uykuya daha geç daldıkları, ileri yaştaki hastaların daha az uyudukları belirlendi. Ayrıca uykuya dalma süresi ile nöbet sıklığı arasında istatistiksel yönden anlamlı bir ilişki saptandı (p= 0,053). Gündüz uykululuğu olan hastaların aynı zamanda uykuya dalma sürelerinin kısa olduğu saptandı. Uykuya dalma süresi uzun olan hastaların uyku kalitesinin de kötü olduğu belirlendi.Sonuç: Uzun süreli antiepileptik ilaç kullanan hastalarda HBS sıklığını % 5,8 olarak saptadık. HBS saptanan hastaların % 76,9'unun monoterapi, % 23'ünün politerapi kullanmakta olduğu dikkati çekti. HBS saptanan hastalarda cinsiyet ve hastalık süresi açısından anlamlı farklılık saptanmadı. Hastalarda HBS yanı sıra horlama, parasonmni atakları benzeri uyku bozuklukları da olduğu belirlendi. Politerapi alan hastaların daha uzun süre uyudukları görüldü. Nöbetleri kontrol altında olmayan hastaların uykuya daha geç daldıkları saptandı. Hem HBS hem de diğer uyku bozukluklarının politerapi ve nöbet sıklığı ile ilişkili olabileceği görüldü.Anahtar Sözcükler: Antiepileptik, epilepsi, HBS ABSTRACTThe Frequency of Restless Legs Syndrome on Epileptic PatientsBackground: Restless Legs Syndrome (RLS) is described as the retraction in the extremities and the irresistible movement of especially the legs after an unpleasant feeling particularly during the resting time in the evenings or the period of getting to sleep. The prevalence of RLS differs according to the societies and chronic diseases. It was reported in various societies as ranging from 0.6-29% and in chronic diseases as ranging from 2.2-26.6%. In our study, we aimed to find out the frequency of RLS on patients with a chronic disease, epilepsy. Material and Method: Totally, 225 patients with epilepsy 61.8% (n=139) of female and 38.2% (n=86) male, the mean age 33.3±12.3 (17-77) were being followed in the epilepsy polyclinic of Neurology Department were included in the study. RLS diagnosis was based on RLS diagnosis criteria on the patients who were included in the study and the patients were given RLS severity rating scale, Pitsburg sleep quality index (PUKI) and Epworth sleep quality inventories. Blood samples were collected from all patients to rule out other etiologies; serum ferritin levels, thyroid functions, B12 and folic acid levels. The statistical analysis of the study was carried out by means of SPSS 17.0 package program. Findings: The frequency of RLS on 225 patients included in the study was found as 5.8% (n=13). In addition to RLS, it was determined that 50.2% of the patients had some other sleep disorders such as snoring, nightmares, periodic leg movement disorder and bruxism. It was observed that 37.3% of the patients (n=84) were on polytherapy and 62.7% of them (n=141) were on monotheraphy. The serum ferritin levels of 74.6% of the patients (n=168) were below 50 ng/mL and 9.8% of the patients had vitamin B12 levels lower than normal values. It was also found that PUKI value was above 5.5 in the 5.3% of the patients (n=12), Epworth sleepiness scale was ? 8 in the 11.1% of the patients (n=25). When the sleeping characteristics of the patients with epilepsy were examined, it was revealed that female patients got to sleep later and the patients with advanced age slept less. Furthermore, a statistically significant difference was found between the period of getting to sleep and the frequency of seizure (p=0.053). It was determined that the patients who had daytime sleepiness had also short periods of getting to sleep. It was revealed that the patients who had long periods of getting to sleep had also bad sleeping quality. Result: We found the frequency of RLS as 5.8% in the patients who had been using anti-epileptic drugs for a long time. There was no statistically significant difference between the patients with RLS in terms of gender and the length of the disease. In addition to RLS, some sleeping disorders such as snoring and parasomnia attacks were observed in the patients. It was seen that the patients who had been taking polytherapy were long sleeper. It was also observed that the patients whose seizures were not taken under control got to sleep later. It was understood that both RLS and the other sleeping disorders could be interralated with polytheraphy and the frequency of seizures. Key Words: Antiepileptic, epilepsy, RLS. 90