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Öğe A multicenter study of self-limited epilepsy with centrotemporal spikes: Effectiveness of antiseizure medication with respect to spike-wave index(Elsevier Inc., 2024) Dilber, Beril; Serdaroğlu, Esra; Kanmaz, Seda; Kılıç, Betül; İpek, Rojan; Kargın Menderes, Deniz; Yıldız, Nihal; Topçu, Yasemin; Arhan, Ebru Petek; Serdaroğlu, Ayşe; Okuyaz, Çetin; Aydın, Kürşad; Tekgül, Hasan; Cansu, AliBackground: 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.Öğe Acute necrotizing encephalopathy associated with RANBP2 mutation: Value of MRI findings for diagnosis and intervention(Springer, 2023) Sarıgeçili, Esra; Koç Uçar, Habibe; Havalı, Cengiz; Cansu, Ali; Aydın, KürşadIntroduction: Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated with RAN-binding protein 2 (RANBP2) mutation. Well-defined MRI findings can even be life-saving with early diagnosis and treatment. Methods: In this article, nine pediatric cases diagnosed with ANEC1 both clinically and radiologically, and with least one variation in the RANBP2 gene, are presented. Results: All patients were previously healthy and presented with encephalopathy after an acute febrile infection. The patients of 44% had a similar attack history in their family. Influenza A/B was detected in 7 patients (78%). One patient was admitted at age 32 years old. The first clinical findings of patients were encephalopathy (100%), seizure (44%), vision problems (33%), ataxia (11%), and monoplegia (11%). Recurrent attacks were seen in two (22%) patients. Brain MRI findings including bilateral thalamus, external capsules, and brainstem involvements were highly suggestive for RANBP2 mutation. Based on MRI findings, genetic analyses were quickly performed and confirmed. All of the patients were treated with empirical encephalitis treatment, oseltamivir, intravenous immunoglobulin (IVIG), high-dose steroid and, if necessary, plasmapheresis, but three (33%) patients died despite treatment. Conclusion: ANEC associated with RANBP2 mutation may occur early or late-onset and can be recurrent and fatal. Therefore, early diagnosis and treatment have the potential to modify the severity of this encephalopathy. Well-defined MRI findings are highly instructive for early diagnosis.Öğe Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?(Elsevier Sci Ltd, 2018) Kamaşak, Tülay; Havalı, Cengiz; İnce, Hülya; Eyüboğlu, İlker; Çebi, Alper Han; Şahin, Sevim; Cansu, Ali; Aydın, KürşadBackground: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature. Methods: Six patients referred from different centers with similar clinical findings were diagnosed with BTBGD with newly identified mutations in the SLC19A3 gene. Two novel mutations in the SLC19A3 gene were identified in two patients at whole exome sequencing analysis. The clinical characteristics, responses to treatment, and electroencephalography (EEG) and MRI findings of these patients were examined. The other four patients presented with similar clinical and cranial MRI findings. These patients were therefore started on high-dose biotin and thiamine therapy, and mutation analysis concerning the SLC19A3 gene was performed. Responses to treatment, clinical courses, EEG findings and follow-up MRI were recorded for all these patients. Results: Age at onset of symptoms ranged from 1 to 3 months. The first symptoms were generally persistent crying and restlessness. Seizures occurred in five of the six patients. Cranial magnetic resonance imaging revealed involvement in the basal ganglia, brain stem, and the parietal and frontal regions in general. The first two patients were siblings, and both exhibited a novel mutation of the SLC19A3 gene. The third and fourth patients were also siblings and also exhibited a similar novel mutation of the SLC19A3 gene. The fifth and sixth patients were not related, and a newly identified mutation was detected in both these subjects. Three novel mutations were thus detected in six patients. Conclusion: BTBGD is a progressive disease that can lead to severe disability and death. Early diagnosis of treatable diseases such as BTBGD is important in order to prevent long-term complications and disability.Öğe Cerebral neoplasm in L-2-hydroxyglutaric aciduria: Two different presentations(Springer, 2020) Dilber, Beril; Havalı, Cengiz; Ero?lu, Nilgün; Aydın, Kürşad; Şahin, Sevim; Cansu, AliBackground: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings. The diagnosis depends on the presentation of increased levels of L-2-hydroxyglutaric acid in the urine, plasma, and cerebrospinal fluids. Patients with L2HGA have an increased risk for the development of cerebral neoplasms which, though rarely, can be the initial presentation of the disease. Moreover, patients with L2HGA have an increased risk for the development of cerebral neoplasms. Cases presentation: Although psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings are the most common characteristics of the disease, we present two rare cases admitted with tumoral symptoms. Conclusion: Patients with L2HGA have an increased risk for the development of cerebral neoplasms.Öğe Characteristics of pediatric multiple sclerosis: The Turkish pediatric multiple sclerosis database(W.B. Saunders Ltd, 2017) Yılmaz, Ünsal; Anlar, Banu; Gücüyener, Kıvılcım; Yaramış, Ahmet; Cansu, Ali; Ünalp, Ayçan; Aksoy, Ayşe; Kaçar Bayram, Ayşe; Kartal, Ayşe; Tosun, Ayşe Fahriye; Serdaroğlu, Ayşe; Konuşkan, Bahadır; Sarıoğlu, Berrak; Yüzbaşı Kıpçak, Beste; Kılıç Aydın, Betül; Taşkın Dilge, Birce; Bulut, Cahide; Yılmaz, Cahide; Yarar, Coşkun; Okuyaz, Çetin; Gençsel, Çiğdem; Yüksel, Deniz; Arslan Bengi, Elif; Gürkaş, Esra; Faruk, İncecik; Serdaroğlu, Gül; Deda, Gülhis; Gürbüz, Gürkan; Gümüş, Hakan; Acer, Hamit; Tekgül, Hasan; Çaksen, Hüseyin; Per, Hüseyin; Erol, İlknur; Çarman Kürşat, Bora; Canpolat, Mehmet; Özkan, Mehpare; Direk Çobanoğulları, Meltem; Kutluk Gültekin, Muhammed; Arslan, Mutluay; Sönmez, Fatma Müjgan; Dündar, Olgaç Nihal; Koçak, Ozan; Aydın, Ömer Faruk; Toptaş, Özge; Duman, Özgür; Hergüner, Mihriban Özlem; Bozkurt, Öznur; Arıcan, Pınar; Yılmaz Keskin, Sanem; Gökben, Sarenur; Işıkay, Şedat; Kumandaş, Sefer; Edizer, Selvinaz; Kurul Hız, Semra; Saygı, Semra; Teber Tiraş, Serap; Güngör, Serdal; Altunbaşak, Şakir; Haspolat, Şenay; Sezer, Taner; Yılmaz Sevim, Tuba; Yiş, Ulaç; Öztoprak, Ülkühan; Aydoğmuş, Ümmü; Topçu, Yasemin; Öztürk, Zeynep; Karalök, Zeynep SelenObjective To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Methods Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (<12 years) and later-onset (?12 years) groups were compared. Results There were 123 (63.7%) girls and 70 (36.3%) boys aged 4–17 years, median 14 years at disease onset. Family history of MS was 6.5%. The first presentation was polysymptomatic in 55.4% of patients, with brainstem syndromes (50.3%), sensory disturbances (44%), motor symptoms (33.2%), and optic neuritis (26.4%) as common initial manifestations. Nineteen children had facial paralysis and 10 had epileptic seizures at first attack; 21 (11%) were initially diagnosed with acute disseminated encephalomyelitis (ADEM). Oligoclonal bands were identified in 68% of patients. Magnetic resonance imaging revealed periventricular (96%), cortical/juxtacortical (64.2%), brainstem (63%), cerebellum (51.4%), and spinal cord (67%) involvement. Visual evoked potentials (VEP) were abnormal in 52%; serum 25-hydroxyvitamin D levels were low in 68.5% of patients. The earlier-onset group had a higher rate of infection/vaccination preceding initial attack, initial diagnosis of ADEM, longer interval between first 2 attacks, and more disability accumulating in the first 3 years of the disease. Conclusion Brainstem and cerebellum are common sites of clinical and radiological involvement in pediatric-onset MS. VEP abnormalities are frequent even in patients without history of optic neuropathy. Vitamin D status does not appear to affect the course in early disease. MS beginning before 12 years of age has certain characteristics in history and course.Öğe Evaluation of micronutrient levels in children with cerebral palsy(Wiley, 2022) Çarman, Kürşat Bora; Aydın, Kürşad; Kılıç Aydın, Betül; Cansu, Ali; Çobanoğulları Direk, Meltem; Durmuş, Selver; Olgaç Dündar, Nihal; Gençpınar, Pınar; Güngör, Serdal; Gürkaş, Esra; Hür, Özgen; Karadağ, Meral; Karademir, Cefa Nil; Özkan Kart, Pınar; Okuyaz, Çetin; Pedük, Yakup; Per, Hüseyin; Serin, Mine Hepsen; Tekgül, Hasan; Ünay, Bülent; Yarar, Coşkun; Kılıç Yıldırım, GoncaBackground Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP). Methods This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status, and micronutrient levels were evaluated. Results The study was conducted with 398 participants (303 patients and 95 healthy controls). Statistical analysis showed that according to the Gomez Classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with CP, based on Centers for Disease Control and Prevention percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in typical children. The results revealed that children consuming enteral nutrition solutions had higher selenium and lower zinc levels than non-consumers. Conclusions Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition.Öğe The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study(Elsevier B.V., 2022) Kamaşak, Tülay; Serdaroğlu, Esra; Yılmaz, Özlem; Aydın Kılıç, Betül; Gönüllü Polat, Burçin; Erdoğan, Irmak; Yücel Şen, A. Derda; Özen, Nalan; Durgut, Betül Diler; Yıldız, Nihal; Özkan Kart, Pınar; Dilber, Beril; Acar Arslan, Elif; Şahin, Sevim; Topçu, Yasemin; Gençpınar, Pınar; Serin, ?Hepsen Mine; Hız, Semra A.; Çarman, Kürşat Bora; Olgaç Dündar, Nihal; Okuyaz, Çetin; Aydın, Kürşad; Serdaroğlu, Ayşe; Tekgül, Hasan; Cansu, AliObjective: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups. Methods: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment. The long-term effectiveness of the drug, overall seizure outcomes, and overall therapeutic outcomes were evaluated during 12 months of therapy. Results: Analysis of initial efficacy after the first three months of clobazam therapy showed that 320 (18.7 %) patients were seizure-free, 683 (39.9 %) had > 50 % seizure reductions, and 297 (17.4 %) had < 50 % seizure reductions. A positive response (seizure-free and >50 % seizure reduction) was determined for focal-onset (62.3 %) seizures, epileptic spasms (61.5 %), and generalized onset seisures (57.4). The highest positive response rate among the epileptıc syndromes was for self-limited epilepsy with centrotemporal spikes (SeLECTS). The highest negative response rate was for developmental and/or epileptic encephalopathies (DEEs). Magnetic resonance imaging (MRI) revealed a structural etiological diagnosis in 25.8 % of the cohort. A higher positive response rate was observed at MRI in patients with sequelae lesions than in those with congenital lesions. The seizure recurrence rate was higher in the patient group with epilepsy wıth genetic and metabolic causes, in individuals with more than one seizure type, and in those using three or more antiseizure drugs. Conclusions: This cohort study provides additional evidence that clobazam is an effective and well-tolerable drug with a high seizure-free rate (18.7 %), a significant seizure reduction rate (57.3 %), and with excellent overall therapeutic outcomes with a low seizure relapse rate and considerable reversible benefits in the pediatric population.Öğe The new trend for antiseizure medication selection in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020(Wiley, 2022) Aydın, Kürşad; Kılıç, Betül; Serdaroğlu, Esra; Gönüllü Polat, Burçin; İnce, T.; Esenülkü, Gülnur; Topçu, Yasemin; Serdaroğlu, Ayşe; Haspolat, Şenay; Tekgül, Hasan; Okuyaz, Çetin; Cansu, Ali[Abstract Not Available]Öğe Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (eo-dees): a nationwide Turkish cohort study(2024) Kanmaz, Seda; Tekgül, Hasan; Aydın, Kürşad; Kılıç, Betül; Topçu, Yasemin; Özpınar, Esra; Cansu, AliObjective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management. Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005–2013) and the current NGS era (2014–2022). A predefined four-stepwise diagnostic model was evaluated using cost-effectiveness analysis. The diagnostic and potential therapeutic yields of the genetic tests were subsequently determined. Results: Gene-related EO-DEEs were identified in 48.3 % (n = 701) of the cohort: non-structural genetic (62.6 %), metabolic genetic (15.1 %), and structural genetic (14.1 %). The most common nonstructural genetic variants were SCN1A (n = 132, 18.8 %), CDKL5 (n = 30, 4.2 %), STXBP1 (n = 21, 2.9 %), KCNQ2 (n = 21, 2.9 %), and PCDH19 (n = 17, 2.4 %). The rate of ultra-rare variants (< 0.5 %) was higher in the NGS era (52 %) than that in the initial phase (36 %). The potential therapeutic yields with precision therapy and antiseizure drug modification were defined in 34.5 % and 56.2 % in genetic-EO-DEEs, respectively. The diagnostic model provided an etiology-specific diagnosis at a rate of 78.7 %: structural (nongenetic) (31.4 %), genetic (38.5 %), metabolic (6.1 %), and immune-infectious (2.8 %). Based on a cost-effectiveness analysis, the presented diagnostic model indicated the early implementation of whole-exome sequencing for EO-DEEs. Significance: In the present cohort, the higher rate (48.3 %) of gene-related EO-DEE diagnoses in the NGS era provides a potential therapeutic management plan for more patients.Öğe Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020(W.B. Saunders Ltd, 2022) Kılıç, Betül; Serdaroğlu, Esra; Gönüllü Polat, Burçin; İnce, Tuğçe; Esenülkü, Gülnur; Topçu, Yasemin; Serdaroğlu, Ayşe; Haspolat, Şenay; Tekgül, Hasan; Okuyaz, Çetin; Cansu, Ali; Aydın, KürşadPurpose:Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME. Methods: Treatment choices in a total of 257 patients (age range 8–18 years, 152 girls, 105 boys) with JME diagnosed and treated between 2010 and 2020 were evaluated retrospectively. Seizure remission was defined as complete seizure control for at least 12 months. Results: Across the study period and entire patient group, VPA was most commonly chosen as the initial ASM (50.9%), followed by LEV (44.4%), and lamotrigine (4.7%). VPA was also the most frequent first choice in the subgroup of boys (73.3%), while LEV was the commonest first choice in girls (57.9%). The sex difference regarding the ASM of the first choice was statistically significant (p<0.001). While VPA was the most frequent initial ASM in the first 5 years of the study period (2010–2015,n = 66, 64%), LEV had taken over as the most popular first ASM in the last 5 years (n = 83, 53.9%, p = 0.005). The most frequent reasons for discontinuation were inefficacy for LEV and adverse effects for VPA (p = 0.001). During follow-up, 237 patients (92.2%) were seizure-free for at least 12 months, and 159 (61.9%) were also in electrographic remission. Seizure remission occurred earlier than electroencephalographic remission (p<0.001). Conclusion: This study revealed that LEV has become the most frequently chosen initial ASM in the treatment of JME. Although LEV appears to have a better adverse effect profile, VPA seems more likely to be effective in achieving seizure control.
