Search Results - "Kara, Bülent"
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1
Could Maternal COVID-19 Disease be a Risk Factor for Neurodevelopmental Disorders in the Child?
Published in Turkish archives of pediatrics (01-11-2021)Get full text
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2
Clinical and electrophysiological predictors of behavioral disorders in patients with benign childhood epilepsy with centrotemporal spikes
Published in Epilepsy & behavior (01-08-2021)“…•Approximately one-third of patients with BECTS may have behavioral disorders.•Early onset of seizures may be a risk factor for behavioral disorders in…”
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3
The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts
Published in Pediatric neurology (01-07-2023)“…Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early-onset macrocephaly and progressive white…”
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4
Myoclonic status epilepticus in non-progressive encephalopathies within the GRIN2A-associated epilepsy-aphasia spectrum
Published in Seizure (London, England) (01-12-2023)Get full text
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5
Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency
Published in Neuropediatrics (01-04-2022)“…Congenital CD59 deficiency is an autosomal recessive disease characterized by mild-to-moderate chronic intravascular hemolysis, relapsing demyelinating…”
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6
Retinal and Choroidal Vascularity Evaluation in Pediatric Radiologically Isolated Syndrome and Multiple Sclerosis
Published in Pediatric neurology (01-04-2024)“…To assess vessel density (VD) and flow of retinal plexuses and peripapillary region related with the pediatric radiologically isolated syndrome (RIS) and…”
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7
Probable association between mRNA COVID-19 vaccine and opsoclonus-myoclonus-ataxia syndrome
Published in Journal of AAPOS (01-04-2023)“…Opsoclonus-myoclonus-ataxia syndrome (OMAS) in children is most often of paraneoplastic origin, but it can also result from infectious processes, toxic and…”
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Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis
Published in Brain & development (Tokyo. 1979) (01-10-2021)“…Cytotoxic lesions of the corpus callosum (CLOCCs) are secondary lesions associated with entities like infection manifested by restricted diffusion on…”
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Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1
Published in Seizure (London, England) (01-08-2020)Get full text
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10
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
Published in Human molecular genetics (15-05-2011)“…We present a family afflicted with a novel autosomal recessive disease characterized by progressive intellectual disability, motor dysfunction and multiple…”
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11
Effectiveness and Safety of Epilepsy Surgery for Pediatric Patients with Intractable Epilepsy: A Clinical Retrospective Study from a Single-Center Experience
Published in Pediatric neurosurgery (01-02-2024)“…Pediatric epilepsy surgery is an effective treatment modality for patients with drug-resistant epilepsy (DRE). Early pediatric surgery yields favorable results…”
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12
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems
Published in Clinical genetics (01-11-2019)“…Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually…”
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13
Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia
Published in Noro-Psikiyatri Arsivi (01-12-2022)“…Previous reports described a pattern of hypoglycemia-induced damage predominantly affecting the parieto-occipital regions. The long-term neurological sequelae…”
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14
Angioedema‐like presentation as the presenting finding of juvenile myositis and juvenile dermatomyositis in 2 patients
Published in International journal of rheumatic diseases (01-05-2022)“…Background Juvenile dermatomyositis (JDM) is the most common subtype of idiopathic inflammatory myopathies in childhood. Gottron’s papules, shawl sign,…”
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15
Clinical and Electrophysiological Characteristics of Patients with Juvenile Absence Epilepsy in a Turkish Cohort
Published in Genel tip dergisi (31-12-2022)“…Juvenile absence epilepsy is an epileptic syndrome that usually begins between the ages of 9-13 and is classified in the group of genetic generalized…”
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The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations
Published in Clinical EEG and neuroscience (01-05-2018)“…Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an…”
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The frequency of late-onset pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: a multicenter study
Published in Neuromuscular disorders : NMD (01-11-2016)“…Highlights • We screened 72 children with limb-girdle muscle weakness or nonspecific hyperCKemia for Pompe disease in Turkey. • 4.2 % of children had…”
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18
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A
Published in European journal of human genetics : EJHG (01-02-2017)“…In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar…”
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Congenital Cytomegalovirus Infection Screening in Newborns From Saliva Samples by Real-Time Polymerase Chain Reaction Analysis
Published in Turkish archives of pediatrics (01-07-2023)“…Congenital cytomegalovirus infection is the most common congenital infection. Although screening of congenital cytomegalovirus infection with polymerase chain…”
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Mustafa Kemal Paşa’nın Türkiye Büyük Millet Meclisi’ndeki ilk beyanatı ve bu beyanata dayalı kişisel özelliklerinin tahlili
Published in Ankara Üniversitesi Türk İnkılap Tarihi Enstitüsü Atatürk Yolu Dergisi (01-02-2018)“…Mondros Ateşkes Antlaşması’nın imzalanmasından sonra yaşananlar, toplumun ve yöneticilerin bir kısmında teslimiyet duygusu yaratsa da, Anadolu’da milli…”
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