Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome with a prevalence between 5 and 10% of all epilepsies.[1] Seizures begin typically between the ages of 12 and 18, with a mean of 15 years in JME.[2] [3] Myoclonic seizures is a must for the diagnosis of JME. All the patients have myoclonic seizures, whereas generalized tonic–clonic seizures and absence seizures are seen in 85 to 90% and 20 to 40% of the patients, respectively.[2] [4] Photosensitivity is a sign for early onset seizures. Common triggers are insomnia, alcohol intake, stress, anxiety, and fatigue. Typical seizures occur in the mornings, especially within 30 to 60 minutes after waking up.[5] [6]

Self-limited familial neonatal epilepsy is an autosomal dominant epileptic syndrome characterized by episodes of seizures occurring in the first days of life. Most patients have heterozygous mutations of KCNQ2 gene located on 20q13. A variety of clinical phenotypes have been associated with KCNQ2 mutations, making the prediction of this rare entity difficult. Herein, we report a rare KCNQ2 variant in two siblings with self-limited familial neonatal epilepsy. The siblings had tonic seizures accompanied by clonic jerks in the first few days after birth. Genetic analysis of the siblings revealed a heterozygous KCNQ2 variant: c.1589G > A; (p.Ser530Asn). The identical variant subsequently was identified in the mother. To our knowledge, this variant has not been previously reported in individuals with KCNQ2-related disease. This is the first report that reveals c.1589G > A variant of KCNQ2 gene as a pathogenic variant in two siblings.

The four highly conserved and non- imprinted genes (NIPA1, NIPA2, CYFIP1 and TUBGCP5) are located on the proximal 15q in the region between BP1 and BP2 which spans approximately 500 kb. Here, we report on a paternally inherited 15q11.2 breakpoint 1-2 microduplication carrier with epilepsy, near-normal neurodevelopment, mild intellectual disability and speech delay. The father had a normal phenotype, suggesting the variable expressivity. Proximal 15q breakpoint 1-2 region copy number variants may not warrant a clinical outcome since the phenotypic variability and low penetrance. We believe that greater understanding of the possible underlying molecular, genetic, and environmental modifying factors of the copy number variants in this susceptibility locus will aid in our clinical approach.

BACKGROUND:We aimed to analyze pediatric patients with coronavirus disease 2019 (COVID-19) with a diverse spectrum of neurological manifestations in a single center since neurological involvement in children is still poorly understood. METHODS:We performed a retrospective study on 912 children aged between zero and 18 years who had a positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) test result and symptoms of COVID-19 from March 2020 to March 2021 in a single center. RESULTS:Among 912 patients, 37.5% (n = 342) had neurological symptoms and 62.5% (n = 570) had no neurological symptoms. The mean age of patients with neurological symptoms was significantly higher (14.2 ± 3.7 vs 9.9 ± 5.7; P < 0.001). Three hundred and twenty-two patients had nonspecific symptoms (ageusia, anosmia, parosmia, headache, vertigo, myalgia), whereas 20 patients had specific involvement (seizures/febrile infection-related epilepsy syndrome, cranial nerve palsy, Guillain-Barré syndrome and variants, acute disseminated encephalomyelitis, central nervous system vasculitis). The mean age of the patients with nonspecific neurological symptoms was significantly higher (14.6 ± 3.1 vs 7.7 ± 5.7; P < 0.001). CONCLUSION:This study presents a large number of patients with a diverse spectrum of neurological manifestations. The rare neurological manifestations reported in our study will contribute to better understanding the neurological involvement of SARS-CoV-2 in children. The study also points out the differences of SARS-CoV-2-related neurological manifestations between patients at different ages. Physicians should be alert about recognizing the early neurological manifestations of the SARS-CoV-2 in children.

Elektroensefalografi: Tarihçe ve Cihaz Mustafa ÇALIK Elektroensefalografinin Nörofizyolojik Temelleri Yüksel YILMAZ Polarite ve Montaj Sedat IŞIKAY1 Shehab AL-HAITHAMY2 Elektroensefalografi Cihazı, Kayıt Elektrotları, Kayıt Parametreleri, Filtreler, Ayarlar ve Kayıt Tekniği Serkan KIRIK Mehmet CANPOLAT Sefer KUMANDAŞ EEG Monitörizasyonu ve Video-EEG Monitörizasyon Ünitelerinin Temel Özellikleri Ceren GÜNBEY Elektroensefalografinin Değerlendirilmesi ve Terminoloji Coşkun YARAR Normal Elektroensefalografi Ritimleri Fatma HANCI Mehmet CANPOLAT Sefer KUMANDAŞ Uyku Elektroensefalografisi ve Polisomnografi Salih AKBAŞ Ebru ARHAN Artefaktlar Canan ÜSTÜN Bülent ÜNAY Elektroensefalografide Aktivasyon Yöntemleri Rojan İPEK Çetin OKUYAZ Yenidoğan ve Süt Çocuklarında Teknik Özellikler ve Montaj Atilla ERSEN Nihal Olgaç DÜNDAR Yenidoğan Döneminde Elektroensefalografinin Matürasyonu Sanem YILMAZ Sarenur GÖKBEN Yenidoğan Normal Elektroensefalografi Bulguları ve Artefaktları Günce BAŞARIR Pınar GENÇPINAR Yenidoğanda Patolojik Elektroensefalografi Bulguları Seda KANMAZ Hasan TEKGÜL Amplitüd İntegre Elektroensefalografi (Aeeg) Nihal OLGAÇ DÜNDAR Yenidoğanda Devamlı Elektroensefalografi Monitorizasyonu ve EEG Bulguları Sema BOZKAYA YILMAZ Pınar GENÇPINAR Yenidoğanda Status Epileptikus ve EEG Seda KANMAZ Hasan TEKGÜL İnfant ve Çocuklarda Serebral Aktivitenin Ontogenezisi Tuğba HIRFANOĞLU Benign EEG Varyantları Kürşad AYDIN Betül KILIÇ Fokal Epilepsilerde İnteriktal EEG Bulguları Şenay HASPOLAT Özlem YAYICI KÖKEN Fokal Epilepsilerde İktal EEG Bulguları Esra SERDAROĞLU Ayşe SERDAROĞLU Lezyonel Epilepsilerde İktal EEG ve Beyin Manyetik Rezonans Görüntüleme Bulguları Ceren GÜNBEY Rahşan GÖÇMEN Dilek YALNIZOĞLU Jeneralize Epilepsilerde İnteriktal EEG Bulguları Dilşad TÜRKDOĞAN Jeneralize Epilepsilerde İktal EEG Bulguları Esra SERDAROĞLU Ayşe SERDAROĞLU Erken Başlangıçlı Neonatal Epileptik Ensefalopatilerde EEG Bulguları Canan ÜSTÜN Mutluay ARSLAN Süt Çocukluğu (İnfantil) Epileptik Ensefalopatilerinde EEG Bulguları Ayşe Nur COŞKUN Bülent ÜNAY Çocukluk ve Ergenlik Dönemi Epileptik Sendromları Dilşad TÜRKDOĞAN Koma ve Ensefalopatilerde EEG Bulguları Gülhis DEDA Ömer BEKTAŞ Refleks Nöbetler ve Refleks Epilepsilerde EEG Nesrin CEYLAN Ayşegül DANIŞ Olgu Örnekleri ile Fotosensitivite ve Epilepsi Ayşe Nur COŞKUN Mutluay ARSLAN Periyodik ve Ritmik EEG Örnekleri Özlem ERSOY Mustafa KÖMÜR Metabolik Epilepsiler Burcu KARAKAYALI Olcay ÜNVER Otoimmün Ensefalitlerde Elektroensefalografi Bulguları Fatih M. Akif ÖZDEMİR Gültekin KUTLUK Ömer BEKTAŞ Sistemik ve Metabolik Bozukluklarda EEG Burcu KARAKAYALI Olcay ÜNVER İlaç ve Toksinlerin Elektroensefalografi Üzerine Etkileri Kürşat Bora ÇARMAN Travmatik Beyin Hasarında EEG Arzu EKİCİ Beyin Tümörlerinde EEG Bulguları Sedat IŞIKAY İnmeli Hastada EEG Filiz MIHÇI Gültekin KUTLUK Ömer BEKTAŞ Santral Sinir Sistemi Enfeksiyonlarında Elektroensefalografik Bulgular Hilal AYDIN Sevim TÜRAY Kromozomal Anomaliler ve Kortikal Gelişimsel Malformasyonlarda EEG Bulguları Deniz YÜKSEL Baş ağrısı ve EEG Fatma HANCI Mehmet CANPOLAT Sefer KUMANDAŞ Konvülzif Status Epileptikus Mehmet CANPOLAT Nonkonvülzif Status Epileptikus ve EEG Esra SERDAROĞLU Ayşe SERDAROĞLU NORSE ve FIRES Olgularında EEG Şenay HASPOLAT Özlem YAYICI KÖKEN Febril Nöbetler ve Febril Status Epileptikusda EEG Bulguları Sevim TÜRAY Nesrin CEYLAN Lateralize ve Lokalize Edici Bulgular Yasemin TOPÇU Kantitatif Elektroensefalografi Ezgi ÇAĞLAR Çetin OKUYAZ Magnetoensefalografi (MEG) ve Fonksiyonel MRI (fMRI)’ın Epilepside Kullanımı Tuğba HİRFANOĞLU Ambulatuvar Elektroensefalografi Canan ÜSTÜN Bülent ÜNAY Yoğun Bakım Hastalarında Devamlı Elektroensefalografi Monitörizasyonu ve Elektroensefalografi Bulguları Duygu AYKOL Döndü ÜLKER ÜSTEBAY Uluç YİŞ Beyin Ölümü & Elektroensefalografi Serap BİLGE Faruk İNCECİK Çocuklarda Elektroensefalografi Çekimleri Sırasında Sedasyon Uygulamaları Dilek GÜNAY CANPOLAT Rutin EEG Raporlama Sarenur GÖKBEN Video EEG Raporlama Ceren GÜNBEY EEG ve Hekimlerin Yasal Yükümlülükleri Haşim ASİL Sedat SEVİÇİN

Objective: Immaturity of the digestive tract and enteric nervous system is a widely accepted theory for infantile colic (IC) etiopathogenesis. The study aimed to show whether neurotrophins that are necessary for normal functioning and development of the gastrointestinal system have a role in the pathogenesis of IC.Materials and Methods: The IC group (n = 75) comprising the mothers of infants with IC and the control group (n = 75) were included to this cross-sectional case-control study. Brain-derived neurotrophic factor (BDNF), glial cell-derived neurotrophic factor (GDNF), ciliary neurotrophic factor (CNTF), and nerve growth factor (NGF) levels of breast milk samples were evaluated by immunosorbent analysis method.Results: The mean age of infants with IC was 7.3 +/- 2.8 weeks, while the mean age of the control group was 8.1 +/- 2.9 weeks (p = 0.110). No significant difference was found between the breast milk BDNF, GDNF, CNTF, and NGF levels of two groups (p = 0.941, p = 0.510, p = 0.533, p = 0.839, respectively).Conclusions: This is the first report comparing the neurotrophin levels of the breast milk samples taken from the mothers of infants with and without IC. The study demonstrated that breast milk neurotrophin levels of the mothers did not differ significantly between the infants with and without IC.

Abstract Objectives Non-alcoholic fatty liver disease (NAFLD) is a common obesity-related comorbidity in childhood. In this study, we aimed to evaluate predictors of NAFLD by comparing clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis. Methods Two hundred and eight obese children aged 6–18 years were included. The patients were divided into group 1 (patients with NAFLD, n=94) and group 2 (patients without NAFLD, n=114). Anthropometric measurements, pubertal stage, lipid profiles, fasting glucose and insulin, homeostatic model of assessment for insulin resistance (HOMA-IR), uric acid, total bilirubin, alanine aminotransferase (ALT), blood urea nitrogen, thyroid-stimulating hormone and free thyroxine parameters were compared retrospectively. Results The mean body weight, body mass index (BMI), height, tri-ponderal mass index (TMI), insulin, HOMA-IR, triglyceride, ALT and uric acid values were significantly higher, while high-density lipoprotein-cholesterol (HDL-C) values were significantly lower in group 1. The 70.7% of obese children with hepatosteatosis and 83.9% of those without hepatosteatosis were correctly estimated by parameters including age, gender, ALT, HDL-C, fasting insulin and uric acid values. Conclusions Since obesity-associated hepatosteatosis induces various long-term metabolic impacts in children, early detection is of critical importance. Age, gender, TMI, BMI, ALT, HDL-C, fasting insulin and uric acid values may help to predict the risk of hepatosteatosis. Besides, we assessed whether TMI compared to BMI does not have a better utility in estimating obesity-induced hepatosteatosis in children. This is the first study to show the association between TMI and hepatosteatosis in children.

Purpose: To determine the frequencies of nomophobia and alexithymia in medical school students and to show whether there is a relationship between nomophobia and alexithymia. Materials and Methods: This is a descriptive study conducted on 83 medical faculty students. For the assessment of nomophobia and alexithymia among the study population, the “Smartphone addiction scale” and “Toronto Alexithymia Scale” were used. The data were analyzed using SPSS 22 statistical software. Results: Nomophobia and moderate alexithymia have been detected in 100% of the medical faculty students. The nomophobia scores of medical faculty students do not show a significant difference according to gender (p=0.3), grade levels (p=0.6), type of exercise (p=0.2), exercise frequency (p=0.2), the time that they spent on a smartphone (p=0.9), time of the day that they mostly use their smartphones (p=0.4), carrying a portable charger (p=0.6), or the most common reason to use the smartphone internet (p=0.5). Conclusion: The increase in the usage of smartphones in daily life leads to dependence on smartphones, especially in young people and students. In the future, more studies of nomophobia are needed to understand the factors affecting this psychological condition.

The World Health Organization (WHO) announced a pandemic in December 2019 due to the SARS-CoV-2. In addition to typical findings, such as fever, fatigue and respiratory system symptoms, other system findings have also been described. In this article, we present a pediatric case, diagnosed with acute sensorimotor axonal neuropathy associated with SARS-CoV-2 to raise the awareness, that patients presenting with atypical symptoms may be infected with SARS-CoV-2.