Sanem Yılmaz

Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort

Canan Üstün, İpek Polat, Gülten Öztürk, Olcay Ünver et autres

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Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort.

Canan Üstün, İpek Polat, Gülten Öztürk, Olcay Ünver et autres

Congenital myasthenic syndromes (CMS) are inherited disorders caused by defects in proteins essential for neuromuscular transmission. In this nationwide, multicenter retrospective study, we analyzed 133 genetically confirmed CMS cases from 118 unrelated families between 2017 and 2024 across 28 centers in Türkiye. …

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Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies

Sanem Yılmaz, Enise Avcı Durmuşalioğlu, DİLARA ECE TOPRAK DOĞAN, Seda Kanmaz et autres

Background Optical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental epileptic encephalopathies (DEEs) with unresolved genetic causes. Materials and methods A total of …

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Evaluation, Diagnosis, and Treatment of Sydenham Chorea: Consensus Guidelines

Terrence Gerard Sundram Thomas, Michael Eyre, Emanuela Ferrarin, Tamsin Newlove‐Delgado et autres

An international panel of 27 experts (pediatric and movement disorder neurologists, psychiatrists, and parent representatives) from all continents participated in a Delphi process to establish international consensus guidelines for the evaluation, diagnosis, and management of children with Sydenham chorea (SC) based on …

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Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients

Gülçin Akıncı, Berk Özyılmaz, Gülten Öztürk, Mustafa Kömür et autres

tr (code pays fourni par la source)

Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications

Muhittin Özcan, Seda Kanmaz, Erdem Şimşek, Dilara Ece Toprak et autres

OBJECTIVE: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications. METHODS: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The …

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Corrigendum to “Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes” [Europ. J. Paediatr. Neurol. 41 (2022) 8–18 doi.org/10.1016/j.ejpn.2022.08.006]

Ünsal Yılmaz, Ünsal Yılmaz, Kıvılcım Gücüyener, Merve Yavuz et autres

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A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course?

Deniz Yılmaz, Serap Teber, Pembe Gültutan, Miraç Yıldırım et autres

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Kumandaş & Canpolat Pediatrik ve Neonatal EEG Atlası

Mustafa Çalık, Y Yilmaz, Sedat Işıkay, Shehab Al-Haıthamy et autres

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 …

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Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Çağatay Günay, Duygu Aykol, Özlem Özsoy, Ece Sönmezler et autres

BACKGROUND: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and …

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Redefining The Characteristics of Pediatric Multiple Sclerosis in The Era of Antibody-Associated Demyelinating Syndromes

Muhittin Bodur, . Turkish Pediatric Multiple Sclerosis Study Group, Banu Anlar, Serap Tiraş TEBER et autres

Optic Neuritis in Turkish Children: A Multicenter Retrospective Study

Seda Kanmaz, Ali Cansu, Sevim Sahin, Nihal Yıldız et autres