Sanem KESKİN YILMAZ

Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı

Research areas: Health Sciences, Internal Medicine Sciences, Medicine, Child Health and Diseases, Pediatric Neurology, Neurology, Natural Sciences, Life Sciences, Medical Genetics, Surgery Medicine Sciences

Publications

• Targeted Analysis of Spliceosomal snRNA Genes in Unexplained Neurodevelopmental Disorders Identifies ReNU Syndrome and RNU4atac-opathy (2026)
• International Registry of NKX2‐1 ‐Related Disorders: Clinical, Genetic, and Imaging Perspectives (2026)
• The efficacy and tolerability of lacosamide adjunctive therapy in children with drug-refractory epilepsy: A nationwide Turkish cohort study (2026)
• Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort (2026)
• The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications (2026)
• Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey (2026)
• Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics (2025)
• Evaluation, Diagnosis, and Treatment of Sydenham Chorea: Consensus Guidelines (2025)
• Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients (2025)
• Efficacy and Safety Study of the Revised Ege Pediatric Status Epilepticus Protocol (r-EPSEP) (2025)
• Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome (2025)
• Comparison of the three scoring models (STEPSS, mSTEPSS, and END-IT) for outcome characteristics in a pediatric status epilepticus cohort (2025)
• Etiology-specific subgroup analysis of initial pharmacotherapy in infantile epileptic spasm syndrome: A single-center cohort study (2025)
• Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications (2025)
• Nusinersen for children with type I spinal muscular atrophy: 4 years’ clinical experience in Turkish cohort (2025)
• Vaccination Status of Patients with Spinal Muscular Atrophy: A Multicentre Nationwide SMA-VACC Study (2025)
• Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients (2025)
• Comparison of the three scoring models (STEPSS, mSTEPSS, and END-IT) for outcome characteristics in a pediatric status epilepticus cohort (2025)
• Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome (2025)
• Efficacy and Safety Study of the Revised Ege Pediatric Status Epilepticus Protocol (r-EPSEP) (2025)
• The Role of Diffusion Tensor Magnetic Resonance Imaging in Understanding Neurological and Ocular Outcomes in Preterm Infants with Periventricular Leukomalacia (2025)
• Etiology-specific subgroup analysis of initial pharmacotherapy in infantile epileptic spasm syndrome: A single-center cohort study (2025)
• Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics (2025)
• Utility of Optical Genome Mapping in Repeat Disorders (2024)
• The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era (2024)
• The clinical value of amplitude-integrated electroencephalography in a historical cohort with neonatal encephalopathy: A comparison of short-term versus prolonged-period monitoring (2024)
• Inter‐rater Agreement for Movement Disorder Classification in Children with Hyperkinetic Movement Disorders (2024)
• Sleep problems in adolescents with epilepsy and their caregivers: associations with behavioural difficulties (2023)
• İnflamatuvar Bağırsak Hastalığı Olgusunda Komplike Serebral Ven Trombozu Tedavisi ve Yönetimi (2023)
• The adaptability of new trainees in pediatrics for the current epileptic seizure classification (ILAE-2017) with a modular education program (2023)
• Assessment of Prognostic Factors and Validity of Scoring Models in Childhood Autoimmune Encephalitis (2023)
• The Prophylaxis of Febrile Convulsions in Childhood: Secular Trends in the Last Decade (2007-2008 versus 2017-2018) (2023)
• What are the predominant predictors of seizure relapse following discontinuation of anti‐seizure medication in epileptic children? (2023)
• Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study (2023)
• Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children (2023)
• Role of serostatus in pediatric neuromyelitis optica spectrum disorders: A nationwide multicentric study (2023)
• Optic neuritis in Turkish children and adolescents: A multicenter retrospective study (2023)
• A Rare Cause of Developmental Epileptic Encephalopathy: D-Bifunctional Protein Deficiency with a Novel Pathogenic Variant (2023)
• Adaptability of Pediatric Residents for the International League Against Epilepsy-2017 Seizure Classification with a Modular Education Program (2023)
• Hashimoto's encephalopathy presenting with unusual clinical findings in pediatric population: revision of the diagnostic criteria (2023)
• Continuous EEG Monitoring in Critically Ill Children and Prognostic Factors for Short-term Outcome: An Observational Study (2022)
• Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes (2022)
• Continuous EEG Monitoring in Critically Ill Children and Prognostic Factors for Short-term Outcome: An Observational Study (2022)
• Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals (2022)
• Spike wave characteristics and temporal spike evolution on serial EEG in childhood epilepsy with centrotemporal spikes (2021)
• Melatonin Versus Chloral Hydrate for Sleep Electroencephalography Recording in Children: A Comparative Study Using Bispectral Index Monitoring Scores and Electroencephalographic Sleep Stages (2021)
• The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum (2021)
• Spike wave characteristics and temporal spike evolution on serial EEG in childhood epilepsy with centrotemporal spikes. (2021)
• Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey (2021)
• Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder (2021)
• Cerebral sinovenous thrombosis in children: A single-center experience (2021)
• A Rare Cause of Reversible Splenial Lesion Syndrome (RESLES): Benign Convulsions with Mild Gastroenteritis (2021)
• Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease (2021)
• CSF levels of a set of neurotrophic factors (brain-derived neurotrophic factor, nerve growth factor) and neuropeptides (neuropeptide Y, galanin) in epileptic children. (2020)
• Sulthiame add-on treatment in children with epileptic encephalopathy with status epilepticus: an efficacy analysis in etiologic subgroups. (2020)
• Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: Piridoksin Bağımlı Epilepsi (2020)
• A transcranial magnetic stimulation study for the investigation of corticospinal motor pathways in children with cerebral palsy (2020)
• A rare cause of ischemic stroke in childhood: spontaneous long segment intracranial dissection (2020)
• CSF levels of a set of neurotrophic factors (brain-derived neurotrophic factor, nerve growth factor) and neuropeptides (neuropeptide Y, galanin) in epileptic children (2020)
• Pediatrik non-travmatik koma prognozunu öngörmede klinik, elektroensefalografik ve nöroradyolojik parametrelerin rolü (2020)
• Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: Piridoksin Bağımlı Epilepsi (2020)
• Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy (2020)
• Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: Piridoksin Bağımlı Epilepsi (2020)
• Clinical spectrum, treatment and outcome of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease in children: a tertiary care experience. (2020)
• Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience (2020)
• The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies (2020)
• Neuropsychological outcome in cases with acute disseminated encephalomyelitis (2020)
• A transcranial magnetic stimulation study for the investigation of corticospinal motor pathways in children with cerebral palsy (2020)
• A rare cause of ischemic stroke in childhood: spontaneous long segment intracranial dissection (2020)
• The prognostic role of clinical, electroencephalographic and neuro-radiological parameters in predicting outcome in pediatric non-traumatic coma (2020)
• Efficacy of levetiracetam as first-line therapy for neonatal clinical seizures and neurodevelopmental outcome at 12 months of age (2020)
• Levetirasetamın Neonatal Klinik Nöbette İlk Tedavi Seçeneği Olarak Etkinliği Ve Uzun Dönem Prognoz Üzerine Etkisi (2019)
• Çocukluk Çağının Nadir Bir Periferik Sinir Hiperekstabilite Olgusu:Isaacs Sendromu (2019)
• Akut Non-Travmatİk ve Non-opereTravmatik Ensefalopatı Hastalarında Uzunsürelı EEG Monitorİzasyonu (2019)
• EFFICACY OF LEVETIRACETAM AS FIRST LINE THERAPY FOR NEONATAL CLINICAL SEIZURES AND ITS LONG TERM OUTCOME AT 12 MONTHS OF AGE (2019)
• Continuous EEG monitoring in cases withAcute Non-Traumatic or Non-OpereTraumatic Encephalopathy (2019)
• Vitamin Yanıtlı Epileptik Ensefalopati Olgusu: Serebral Folat Eksikliği (2019)
• A Rare Cause of Diplopia: Idiopathic Orbital Myositis; A Case Report and Review of the Literature (2019)
• Nonkonvulzif Status Epileptikus Tanılı İki Hasta (2019)
• Necessity of Electroencephalography in High-risk Brief Resolved Unexplained Event (2019)
• Treatment of Chorea in Childhood (2019)
• Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test (2019)
• De Novo CHRNE Mutation: Congenital Myasthenic Syndrome (2019)
• Acquired Demyelinating Syndrome: Single Center Experience (2019)
• A rare casue of brachial plexopathy: hereditary neuralgic amyotrophy (2019)
• A Rare Cause of Diplopia: Idiopathic Orbital Myositis A Case Report and Review of the Literature (2019)
• Spinal Muscular Atrophy Lower Extremity Dominant Type 2 (SMA-LED 2) (2018)
• Cerebral Venous Sinus (Sinovenous) Thrombosis (CSVT) in Children: Single Center Experience (2018)
• Epileptik Nöbet Sınıflamaları: Modüler Eğitim Programı İle Pediatri Asistanları Örnekleminde Karşılaştırılması (2018)
• Santral Sinir Sistemi Tutulumlu Langerhans Hücreli Histiositozlu Olgularda IVIG Kullanımı ve Sonuçları (2018)
• WWOX İlişkili Erken Başlangıçlı Epileptik Ensefalopati (2018)
• Çocuklarda Elektroensefalografik Uyku Evreleri İle Bispektral İndeks Verilerinin Karşılaştırılması (2018)
• Anti-MOG antibody related demyelinating diseases: Clinical-radiological spectrum and treatment experience (2018)
• Comparison of Epileptic Seizure Classifications (ILAE-1981 and ILAE-2017) with A Modular Education Program Among Residents in Pediatrics (2018)
• Anti-Mog Antikoru İle İlişkili Demiyelinizan Hastalıklar: Klinik-Radyolojik Spektrum Ve Tedavi Deneyimleri (2018)
• Comparison Of Electroencephalographic Sleep Stages And Bispectral Index Scores In Children (2018)
• A Rare Cause of Acute Anisocoria in a Child: The Angel's Trumpet Plant. (2018)
• Multiple Sclerosis with Onset Younger Than 10 Years in Turkey (2018)
• Prevalence and severity of malnutrition in pediatric neurology outpatients with respect to underlying diagnosis and comorbid nutrition and feeding related problems. (2018)
• Sturge-Weber Syndrome Type III (2018)

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