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Öğe Acquired Demyelinating Syndrome: Single Center Experience(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2019) Serin, Hepsen Mine; Simsek, Erdem; Kanmaz, Seda; Yilmaz, Sanem; Aktan, Gul; Tekgul, Hasan; Gokben, SarenurObjective: Acquired demyelinating syndromes are immune-mediated demyelinating disorders of the central nervous system. Clinical spectrum includes acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, clinically isolated syndrome, and neuromyelitis optica. Aim of this study is to present the clinical features of patients followed up with the diagnosis of demyelinating disease other than multiple sclerosis and also our therapeutic experience. Method: Data of 30 patients with acquired demyelinating disease followed up in Ege University Department of Child Neurology between January 2013 and January 2018 were evaluated retrospectively. Demographic data, admission complaints, clinical and neuroimaging findings, laboratory results, ophthalmologic findings and treatments used were recorded. Results: The age of the patients ranged between 3, and 15 years and mean age was 8.76 +/- 3.59 years. The most common diagnosis was acute disseminated encephalomyelitis. The most common complaints were ataxia, headache, encephalopathy, plegia (mono+paraplegia), blurred vision and visual loss in order of decreasing frequency. Oligoclonal banding, and anti-aquaporin 4 antibody negativities were detected in all patients. Anti-myelin oligodendrocyte antibody-positivity was found in seven patients. In one of these patients tests were positive for both anti-aquaporin 4 and anti-myelin oligodendrocyte antibodies. Neuroimaging revealed findings consistent with cerebral white matter, spinal cord and optic nerve involvement. All patients were started on intravenous pulse methylprednisolone therapy during the acute episode Conclusion: Since childhood acquired demyelinating diseases may be the first episode of multiple sclerosis, it is important to perform detailed serological tests and CSF examinations for follow-up of patients, and differential diagnosis.Öğe Assessment of Prognostic Factors and Validity of Scoring Models in Childhood Autoimmune Encephalitis(AVES, 2023) Kanmaz, Seda; Yilmaz, Sanem; Toprak, Dilara Ece; Atas, Yavuz; Ince, Tugce; Simsek, Erdem; Dokurel, IpekObjective: The aim of this study is to evaluate the prognostic factors in a single-center pediatric cohort with autoimmune encephalitis. Materials and Methods: The study group consisted of 23 pediatric autoimmune encephalitis patients (seropositive autoimmune encephalitis: 15, seronegative autoimmune encephalitis: 8). Five group prognostic parameters were evaluated: clinical manifestations, electroenc ephalography features, magnetic resonance imaging characteristics, biomarkers, and treatment modalities. Three scoring models were applied: the Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy for predicting autoimmune-related epilepsy in the whole cohort and the anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score for overall outcome in patients with anti-N-methyl-d-aspartate receptor encephalitis. Results: The initial clinical spectrum of the disease was similar in the seronegative and seropositive groups. Almost half of the patients (48%) recovered without any complications with first-line immunotherapy. The patients with movement disorders in the acute phase of the disease needed more likely second-line immunotherapy (P =.039). The presence of status epilepticus at admission was significantly associated with adverse outcomes and the development of autoimmune-related epilepsy (P =.019). Autoimmune-related epilepsy was defined in an equal proportion of patients (91.5%) with 2 immune epilepsy scores (Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy). The N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score and the modified Rankin score assessed for the first-year prognosis were strongly correlated among the patients with anti-N-methyl-d-aspartate receptor encephalitis (P =.03, Spearmen's rho = 0.751). Conclusions: The presence of status epilepticus was the most important prognostic factor in the patients with the adverse outcome. The studied scoring models (Anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status, Antibody Prevalence in Epilepsy, and Response to Immunotherapy in Epilepsy) have also been proven to be applicable to the pediatric age group for predicting overall outcome and autoimmune-related epilepsy.Öğe Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder(Springer Heidelberg, 2021) Kanmaz, Seda; Simsek, Erdem; Yilmaz, Sanem; Durmaz, Asude; Serin, Hepsen Mine; Gokben, SarenurCerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible.Öğe Cerebral sinovenous thrombosis in children: A single-center experience(Aves, 2021) Cetin, Ipek Dokurel; Eraslan, Cenk; Simsek, Erdem; Kanmaz, Seda; Serin, Hepsen Mine; Karapinar, Deniz Yilmaz; Yilmaz, Sanem KeskinObjective: The study aimed to evaluate the patients with a diagnosis of cerebral sinovenous thrombosis in terms of clinical findings, etiology and underlying risk factors, imaging findings, treatment, and prognosis in the long term. Materials and Methods: Medical records of 19 patients whose ages ranged between 0 days and 17 years with clinical and radiological cerebral sinovenous thrombosis in Ege University Department of Child Neurology were retrospectively evaluated. Results: Nine of nineteen cases were female (47.3%). The median age was 84 months (0-201 months). The most common complaint at the presentation was headache (n=12) and the most common physical examination finding was papilledema (n=11). In etiology, otitis/mastoiditis in three cases, iron deficiency anemia in three cases, sinusitis in two cases, catheter use in four cases, Behcet's disease in three cases were determined. The most common observed genetic factors causing thrombosis was methylenetetrahydrofolate reductase mutation. The transverse sinus (68.4%) is the sinus where thrombosis is most frequently observed. As a result of an average follow-up of 12 months (2-72 months), hemiparesis (n=3/19, 15.7%) and epilepsy (n=5/19, 26.3%) were recorded as sequelae findings, and no mortality was observed. Conclusion: In cases presenting with headache, evaluation of papilledema on funduscopic examination should not be skipped. Neurological imaging should be performed in the change of consciousness of poor feeding infants and children with infections in the head and neck area or underlying chronic diseases. When cerebral sinovenous thrombosis is detected, anticoagulant therapy should be started immediately.Öğe The Challenges of Distinguishing Cognitive Disengagement Syndrome from Childhood Absence Epilepsy in Clinical Settings(Routledge Journals, Taylor & Francis Ltd, 2024) Tahillioglu, Akin; Baranokglu Sevin, Ilayda; Erbasan, Zeynep Irem; Kanmaz, Seda; Tekgul, Hasan; Ercan, Eyuep SabriWe evaluated clinical parameters distinguishing cognitive disengagement syndrome (CDS) and childhood absence epilepsy (CAE). 40 children with CDS, 27 with CAE, and 41 controls aged 7-12 were compared regarding sleep problems, CDS, and ADHD symptoms. CDS-sluggishness symptoms, but not CDS-daydreaming symptoms, were significantly higher in CDS group than CAE group. CDS scale provided a weak discrimination value between CDS and CAE. Sleep problems and ADHD symptoms were similar between the two clinical entities. These findings highlight that CDS and CAE might have overlapping symptoms. 'Daydreaming' symptoms but not 'sluggishness' symptoms seem to be main overlapping manifestations between CDS and CAE.Öğe Clinical spectrum, treatment and outcome of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease in children: a tertiary care experience(Springer Heidelberg, 2021) Serin, Hepsen Mine; Yilmaz, Sanem; Simsek, Erdem; Kanmaz, Seda; Eraslan, Cenk; Aktan, Gul; Gokben, SarenurAnti-myelin oligodendrocyte glycoprotein antibodies have been associated with a wide range of clinical presentations including monophasic and relapsing disease courses. Lack of a definitive marker for predicting further relapses and the final diagnoses complicates the clinical follow-up and treatment decisions for patients with the first episode. This study retrospectively analyzed the clinical spectrum, treatment protocols and outcome of nine children with MOG antibody-associated demyelinating disease. Diagnoses at first presentation were acute disseminated encephalomyelitis (ADEM) in six cases (67%), optic neuritis in two cases (22%), and clinically isolated syndrome in one case (11%). The disease remained monophasic in five (56%) cases. All cases with a monophasic disease course were negative for anti-MOG antibody titers in the third month. The initial diagnosis of all relapsing cases was ADEM. Three of the four cases with a relapsing disease course were available for anti-MOG antibody testing at the third month and all were positive, however, antibody titers at the sixth month were inconsistent. Cases with a relapsing disease course had no further attacks after monthly intravenous immunoglobulin treatment. Relapsing disease course is not rare in childhood MOG-antibody associated demyelinating disease. Monthly IVIG treatment may be a good alternative for the long-term treatment of relapsing cases with a low side effect profile. Anti-MOG antibody serostatus at remission periods should be interpreted cautiously. Further studies are needed to better understand and predict the clinical course of pediatric patients with MOG-antibody associated diseases.Öğe The clinical value of amplitude-integrated electroencephalography in a historical cohort with neonatal encephalopathy: A comparison of short-term versus prolonged-period monitoring(Elsevier Sci Ltd, 2024) Tekgul, Hasan; Yalaz, Mehmet; Kanmaz, Seda; Terek, Demet; Aktan, Gul; Akcay, Ayfer Arduc; Koroglu, Ozge A.Background: To compare the amplitude -integrated electroencephalography (aEEG) monitoring (short-term versus prolonged -period) for neonatal seizure detection and outcome. Methods: The aEEG monitoring in a historical cohort (n = 88, preterm:42, and term:46) with neonatal encephalopathy between 2010-2022 was re-evaluated for neonatal seizures (electrographic, electro-clinical, and clinical seizures) and EEG background scoring. The cohort was dichotomized: group I (short -period with 6-12 h, n = 36) and group II (prolonged -period with 24-48 h, n = 52). Both monitoring types were evaluated for the diagnostic accuracy of the patients with seizures and for outcome characteristics (early death as well as adverse outcomes at 12 months of age). Results: A total of 67 (76 %) neonates of the cohort were diagnosed as patients with seizures: electrographiconly seizures in 10 (15 %), electro-clinical seizures in 22 (33 %), and clinical -only seizures in 35 (52 %). The aEEG provides the patients with seizures in neonates with a 36.5 % rate with both types of monitoring: 17/36 (47.2 %) with short-term and 15/52 (28.8 %) with prolonged -period monitoring. The prolonged period aEEG had higher diagnostic values for seizure detection ( sensitivity = 0.73 and negative predictivity value = 0.81 ). However, the aEEG background scores were similar for both types of aEEG monitoring, respectively ( the mean +/- SD: 4.73 +/- 2.9 versus 4.4 +/- 4. p = 0.837 ). The aEEG scoring was correlated with the magnitude of brain injury documented with MRI, the early death, and the adverse outcome at 12 months of age. Conclusions: Both aEEG types are valuable for monitoring the patients with seizures and outcome characteristics.Öğe Çocuklarda İntrakraniyal Hipertansiyon: Etiyolojik, Klinik Özellikler, Tedavi ve Prognoz(2018) Serin, Hepsen; Şimşek, Erdem; Kanmaz, Seda; Biler, Elif; Üretmen, Önder; Yılmaz, Sanem; Tekgül, HasanAmaç: İdiyopatik intrakraniyal hipertansiyon, intrakraniyal basınç artışı semptom ve bulgularıyla tanımlanan bir sendromdur. İntrakraniyal hipertansiyon tanısı ile izlediğimiz hastaların etiyolojik ve klinik özelliklerinin retrospektif olarak değerlendirilmesidir. Gereç ve Yöntemler: Ege Üniversitesi Tıp Fakültesi Çocuk Nöroloji Bilim Dalı’nda idiyopatik intrakraniyal hipertansiyon tanısı ile en az bir yıl süreyle takip edilmiş olan 14 hastanın etiyolojik, klinik, tedavi özellikleri ve progonozu retrospektif olarak değerlendirildi. Bulgular: Hastaların 9’u kız, 5’i erkek idi. Yaş aralığı 3-17 yıl olup, yaş ortalaması 10,42 (±4,65 yıl) yıl olarak saptandı. En sık başvuru yakınması baş ağrısı idi. Yedi (%57,14) hasta idiyopatik intrakraniyal hipertansiyon olarak değerlendirildi. Sekonder intrakraniyal hipertansiyon tanılı hastalarda saptanan etiyolojik nedenler sinüzit, hipervitaminoz A, obezite, sagital sinüs trombozu, transvers sinüs trombozu ve nöro-Behçet idi. Hastaların tümüne medikal tedavi uygulandı. Medikal tedaviden fayda görmeyen bir hastaya optik sinirfenestrasyonu uygulandı. Bir hastada rekürrens izlendi. Sonuç: İdiyopatik intrakraniyal hipertansiyon görme kaybının önlenebilir nedenleri arasında yer almaktadır ve yeterli tedaviye rağmen nadiren görme alanı kaybı ve görme keskinliğinde azalmaya neden olabileceği için hızlı teşhis ve tedavisi önemlidir.Öğe Continuous EEG Monitoring in Critically Ill Children and Prognostic Factors for Short-term Outcome: An Observational Study(Galenos Publ House, 2022) Balci, Ozlem Ozdemir; Simsek, Erdem; Ozkaya, Pinar Yazici; Kanmaz, Seda; Dokurel, Ipek; Serin, Hepsen Mine; Yilmaz, SanemAim: To evaluate the association of etiology, continuous electroencephalography (cEEG) findings and neuroimaging findings with short-term outcomes for patients admitted to a pediatric intensive care unit (PICU) for acute encephalopathy. Materials and Methods: A total of 24 children admitted to a PICU for acute encephalopathy were enrolled into this study. The etiology, treatment, duration of stay in the PICU, their demographic information and their past medical history were recorded. cEEG was initiated as quickly as possible following admission to the PICU and continued for at least 24 hours. Their short-term prognosis was evaluated by the Pediatric Cerebral Performance Category score (PCPC) at PICU discharge. Results: The most common cause was traumatic brain injury comprising 25% (n=6) of all cases. Other common causes were asphyxia (hanging, foreign body aspiration, drowning) (n=4, 16.67%) and intoxication (n=3, 12.5%). Twenty-two patients underwent cranial imaging. The most common findings in CT were hemorrhage (n=6, 30%) and ischemia/edema (n=6, 30%). Fourteen patients had unfavorable PCPC outcome scores. There was a tendency for poorer outcomes in those patients with hemorrhage/fracture or ischemia/edema in the imaging and for those patients who needed either pre-hospital CPR or had non-convulsive seizures but without statistical significance. Conclusion: cEEG in critically ill children is useful for detecting both epileptic and non-epileptic events. The use of cEEG in PICUs can be helpful for the better management of cases.Öğe CSF levels of a set of neurotrophic factors (brain-derived neurotrophic factor, nerve growth factor) and neuropeptides (neuropeptide Y, galanin) in epileptic children(Elsevier Sci Ltd, 2020) Tekgul, Hasan; Serin, Hepsen Mine; Simsek, Erdem; Kanmaz, Seda; Gazeteci, Hande; Azarsiz, Elif; Gokben, SarenurThis paper aims to investigate the possible roles of a set of neurotrophic factors (brain-derived neurotrophic factor-BDNF, nerve growth factor-NGF) and neuropeptides (neuropeptide Y-NPY, and galanin) in children with active epileptogenesis. the cerebrospinal fluid (CSF) levels of BDNF, NPY, NGF and galanin were measured with enzyme-linked immunosorbent assays in epileptic children (n = 73) and controls (n = 64). There were no significant alterations in the CSF levels of BDNF, NPY and NGF in epileptic children with active clinical seizures compared with the levels of controls. However profoundly depressed galanin levels were found in infants with epileptic encephalopathy (mean +/- SD:0.63 +/- 0.19 pg/ml) and significantly increased galanin levels were measured in children with drug resistant epilepsy during the period of status epilepticus (mean +/- SD: 6.92 +/- 1.19, pg/ml pg/ml) compared with the levels of controls. Depressed levels of galanin might reflect a defective anti-epileptogenic effect of galanin in infants with epileptic encephalopathy. on the contrary, increased CSF levels of galanin might be a result of antiepileptogenic effects of this peptide in epileptic children with status epilepticus. (C) 2020 Elsevier Ltd. All rights reserved.Öğe Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application(BMC, 2024) Atik, Tahir; Avci Durmusalioglu, Enise; Isik, Esra; Kose, Melis; Kanmaz, Seda; Aykut, Ayca; Cogulu, Ozgur; Durmaz, Asude; Ozkinay, FerdaNext-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs. The cohort underwent whole exome sequencing (WES) and clinical exome sequencing (CES). Using GATK-gCNV, we identified 12 pathogenic CNVs that correlated with their clinical findings and resulting in a diagnostic yield of 2.67%. Importantly, the study emphasizes the role of CNVs in the etiology of Mendelian disorders and highlights the value of exome sequencing-based CNV analysis in routine diagnostic processes.Öğe Diagnostic yield of next generation sequencingbased copy number variation analysis in Mendelian Disorders(Springernature, 2024) Avci Durmusalioglu, Enise; Isik, Esra; Kose, Melis; Kanmaz, Seda; Aykut, Ayca; Durmaz, Asude; Cogulu, Ozgur[Abstarct Not Available]Öğe Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: PiridoksinBağımlı Epilepsi(2020) Durmaz, Asude; Şimşek, Erdem; Kanmaz, Seda; Yılmaz, Sanem; Aktan, Gül; Tekgül, Hasan; Gökben, SarenurAmaç: Piridoksin bağımlı epilepsi, tipik olarak bebeklik veya erken çocukluk döneminde inatçı nöbetler ile seyreden nadir görülen otozomal resesif bir hastalıktır. Nöbetler geleneksel antiepileptik tedavilere dirençli olup, farmakolojik dozda piridoksine yanıt verir. Bu çalışmada Piridoksin Bağımlı Epilepsi (PBE) tanısı ile izlediğimiz altı hastanın klinik ve genetik özelliklerini sunmayı amaçladık.Gereç ve Yöntemler: Çocuk Nöroloji Bilim Dalı’nda piridoksin bağımlı epilepsi tanısı ile izlenen altı olgunun klinik ve genetik özellikleri ile prognozu retrospektif olarak değerlendirildi.Bulgular: Çalışmaya alınan hastaların 5’i erkek, 1’i kız olup, yaş ortalaması 6.83±3.71 yıldı. Nöbet başlangıç yaşı ortalama 22.33±31.77 (3-90 gün) olup, bir hasta (n:4) hariç diğerleri yenidoğan döneminde başlamıştı. Üç hastada fokal motor nöbet, 2 hastada jeneralize motor nöbet ve 1 hastada epileptik spazm izlendi. Hastaların vitamin B6 tedavisi bir hasta hariç erken dönemde başlandı. Erken dönem tedavi başlanan bir hasta dışında diğer hastalarda mental retardasyon, stereotipik hareketler ve otistik bulgular izlendi. Yapılan moleküler genetik analizde 5 farklı mutasyon saptanmıştır [2 olguda homozigot c.1597delG (p.Ala533ProfsTer18), 1 olguda homozigot c.781 A>G (p.Met261Val),1 olguda birleşik heterozigot c.328C>T (p.Arg110Ter)/c.1566-1G>T, 1 olguda heterozigot c.328C>T (p.Arg110Ter) ve 1 olguda heterozigot c.1356 A>C (p.Lys452Asn)].Sonuç: Piridoksin Bağımlı Epilepsi tedavi edilebilir epilepsi nedenlerinden biri olup açıklanamayan dirençli nöbetleri olan bebeklerde mutlaka düşünülmeli ve terapotik dozda piridoksin tedavisine başlanmalıdır.Öğe Edinsel Demiyelinizan Sendrom: Tek Merkez Deneyimi(2019) Serin, Hepsen Mine; Şimşek, Erdem; Kanmaz, Seda; Yılmaz, Sanem Keskin; Aktan, Gül; Tekgül, Hasan; Gökben, SarenurAmaç: Edinsel demiyelinizan sendromlar, santral sinir sisteminin immün aracılı demiyelinizan bozukluğudur. Klinik spektrum; akut dissemine ensefalomiyelit, optik nörit, transvers miyelit, klinik izole sendrom ve nöromiyelitis optikayı kapsar. Bu çalışmanın amacı, multiple skleroz dışı demiyelinizan hastalık tanısı ile izlenen hastaların klinik özelliklerini ve tedavi deneyimlerimizi sunmaktır. Yöntem: Ocak 2013 ile Ocak 2018 tarihleri arasında Ege Üniversitesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Çocuk Nörolojisi Bilim Dalında takip edilen 30 edinsel demiyelinizan hastalık tanılı hastanın verileri retrospektif olarak incelendi. Demografik veriler, başvuru yakınmaları, klinik bulgular, laboratuvar tetkikleri, nörogörüntüleme sonuçları, oftalmolojik bakı ve uygulanan tedaviler kaydedildi. Bulgular: Hastaların yaşı 3-15 yaş arasında değişmekte olup, yaş ortalaması 8,76±3,59 idi. Akut dissemine ensefalomiyelit en yaygın tanı idi. Başvuru yakınmaları sıklık sırasına göre ataksi, baş ağrısı, ensefalopati, pleji (mono+parapleji), bulanık görme ve görme kaybıydı. Akut enfeksiyon öyküsü, transvers miyelit, akut dissemine ensefalomiyelit ve optik nörit olgularında görüldü. Tüm hastalarda oligoklonal bant ve antiaquaporin-4 antikoru negatif saptandı. Yedi hastada anti-miyelin oligodendrosit antikoru pozitif bulundu. Bu hastalardan birinde hem anti-aquaporin 4 hem de anti-miyelin oligodendrosit antikorları pozitif bulundu. Nörogörüntülemede serebral beyaz cevher, spinal kord ve optik sinir tutulumuyla uyumlu bulgular mevcuttu. Tüm hastalara atak sırasında yüksek doz metilprednizolon tedavisi başlandı ve idame oral steroid ile devam edildi. Relapsları olan hastalarda uzun dönem tedavide azatioprin ve aylık IVIG tedavileri uygulandı. Sonuç: Çocukluk çağı edinsel demiyelinizan hastalıkları multiple sklerozun ilk atağı olabileceğinden hastaların takibi ve ayırıcı tanı için başvuruda ayrıntılı serolojik testlerin, BOS incelemelerinin yapılması önemlidir.Öğe Efficacy of levetiracetam as first-line therapy for neonatal clinical seizures and neurodevelopmental outcome at 12 months of age(Springer Heidelberg, 2020) Kanmaz, Seda; Koroglu, Ozge Altun; Terek, Demet; Serin, Hepsen Mine; Simsek, Erdem; Cetin, Ipek Dokurel; Tekgul, Hasan L.Appropriate treatment of neonatal seizures with an effective therapy is important in reducing long-term neurologic disabilities. Sixty-seven neonates, who received intravenous (IV) levetiracetam (LEV) as first-line therapy for treating seizures between 2013 and 2017 were evaluated retrospectively to investigate the efficacy of LEV and its neurodevelopmental outcome at 12 months of age. of the 67 neonates (44 preterm and 23 term babies) evaluated for seizures, 55 (82%) had a defined etiology. EEG confirmation was obtained in 36 (57.1%) of the neonates with clinical seizures. on the 7th day of the treatment (mean seizure control time 7.4 +/- 15.1 days), LEV was effective as monotherapy in 43 (64%), whereas add-on therapy was required in 24 (36%) neonates. At the 1-year follow-up, 76% of infants achieved drug-free state, nine (18%) infants remained on LEV monotherapy and three (6%) needed add-on therapy. Neurodevelopmental outcome of the infants was assessed with Ankara Development Screening Inventory and results suggested favorable neurodevelopmental outcome in 69.7% of the infants with at the end of the 1-year follow-up with LEV monotherapy. in conclusion, this retrospective cross-sectional study demonstrated that IV LEV is an effective first-line therapy for treating neonatal clinical seizures and LEV monotherapy effect was sustained during the first year follow-up.Öğe Electroencephalography Findings in Acute Encephalopathy(Turkiye Klinikleri, 2019) Gokben, Sarenur; Kanmaz, SedaAcute encephalopathy is a common pediatric emergency during childhood. Although different new modalities have been developed for the evaluation of cerebral functions, electroencephalography (EEG) still has most frequently used method. EEG changes observed in acute encephalopathy are as follows; background changes, periodic discharges, rhythmic discharges, interictal epileptiform discharges, ictal epileptiform discharges. Accurate identification of these changes is determinative in terms of clinical approach, choice of treatment and the prediction of the final outcome. in this article, EEG changes in acute encephalopathy are reviewed.Öğe Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study(Elsevier, 2024) Yildiz, Nihal; Serdaroglu, Esra; Kart, Pinar Ozkan; Besen, Seyda; Kanmaz, Seda; Toprak, Dilara Ece; Kilic, BetulObjectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT). Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers. Results: In this study, 93.3 % of patients were female, with typical RTT found in 70 % of cases. Genetic etiology revealed MECP2, FoxG1, and CDKL5 in 93.8 %, 2.7 %, and 1.8 % of cases, respectively. Atypical RTT clinics were observed in 50 % of male cases, with the first EEG being normal in atypical RTT cases (p = 0.01). Generalized tonic-clonic and myoclonic epilepsy were the most common seizure semiologies, while absence and focal epilepsy were less prevalent. Valproate, levetiracetam, lamotrigine, and clobazam were the most commonly used antiepileptic drugs, affecting the severity and frequency of seizures (p = 0.015, p = <0.001, p = 0.022, and p = <0.001, respectively). No significant differences were observed in EEG findings. The initiation of anti-seizure medications significantly altered seizure characteristics (Table 4). A ketogenic diet and vagal nerve stimulation (VNS) correlated with a 50 % improvement in cognitive function, while steroid treatment showed a 60 % improvement. Remarkably, seizures were substantially reduced after VNS application. Conclusion: This study underscores the importance of genetic diagnosis in RTT cases with a clinical diagnosis. These preliminary results will be further validated with the inclusion of clinically diagnosed RTT cases in our ongoing study.Öğe Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test(2019) Kanmaz, Seda; Şimşek, Erdem; Serin, Hepsen Mine; Erdoğan, Murat Kadri; Yılmaz, Sanem; Aktan, Gül; Gökben, SarenurHereditary neuropathy with a liability to pressure palsies (HNPP) represented by recurrent focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with a recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.Öğe Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test(2019) Kanmaz, Seda; Şimşek, Erdem; Serin, Hepsen Mine; Erdoğan, Murat Kadri; Yılmaz, Sanem; Aktan, Gül; Gökben, SarenurHereditary neuropathy with a liability to pressure palsies (HNPP) represented by recurrent focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with a recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.Öğe A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index(Elsevier Science Inc, 2024) Dilber, Beril; Serdaroglu, Esra; Kanmaz, Seda; Kilic, Betuel; Ipek, Rojan; Menderes, Deniz Kargin; Yildiz, NihalBackground: There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings. Methods: In this multicenter study, the study cohort consisted of 604 children with self-limited epilepsy with centrotemporal spikes. A data set of epilepsy centers follow-up between 2010 and 2022. The cohort was divided into 4 groups as those receiving 3 different monotherapy (carbamazepine [CBZ]/valproic acid [VPA]/levetiracetam [LEV]) and dual therapy. SWI analysis was performed with the percent of spikes in the 2-minute epoch in the 5th 6th minutes of the nonrapid eye movement sleep EEG record. The study group were also categorized according to seizure burden with seizure frequency (I) >2 seizures and (II) >5 seizures. Seizure outcome was evaluated based on the reduction in seizure frequency over 6-month periods: (1) 50% reduction and (2) seizure-free (complete response). Results: ASM monotherapy was achieved in 74.5% children with VPA, CBZ, and LEV with similar rates of 85.8%, 85.7%, and 77.9%. Dual therapy was need in the 25.5% of children with SeLECT. More dual therapy was administered in children aged below 5 years with a rate of 46.2%. Earlier seizure-free achievement time was seen in children with LEV monotherapy with more complete-response rate (86.7%) compared the VPA and CBZ. Conclusions: We also determined that the children on dual therapy had more SWI clearance in the subsequent EEG recordings. The ROC curve analyses were performed to predict initial drug selection with using the SWI% might be used for the prediction of ASM type and drug selection in children. (c) 2023 Elsevier Inc. All rights reserved.
