Scientific work

Doç. Dr. Sevgi Yimenicioğlu

65 publications. The source of the information is stated next to each publication.

Back to profile

  1. Epilepsi tanılı çocuğu olan ebeveynlerin epilepsiye ilişkin bilgi düzeyleri ve damgalanma algılarının değerlendirilmesi: Tanımlayıcı bir çalışma

    Ağrı Tıp Fakültesi Dergisi, 2026

    DOI 10.61845/agrimedical.1798384 Open-access full textSource: ORCID

  2. Clinical and molecular spectrum of TSC1 and TSC2 mutations in pediatric tuberous sclerosis complex: Report of five novel variants

    Neurology Asia, 2026

    DOI 10.54029/2026jwy Open-access full textSource: ORCID

  3. Concomitant Antiseizure Medications' Influence on Valproic Acid and Levetiracetam Pharmacokinetics in Pediatric Patients

    Pediatrics International, 2026

    DOI 10.1111/ped.70510 PMID 42590959 Open-access full textSource: ORCID

  4. Prenatal diagnosis of fetal left transverse venous sinus thrombosis with intracranial hemorrhage: imaging findings and short-term outcome

    Pediatric Radiology, 2025

    DOI 10.1007/s00247-025-06475-0 PMID 41258972 1 citation (OpenAlex) Source: OpenAlex

  5. Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report

    The Turkish Journal of Pediatrics, 2025

    DOI 10.24953/turkjpediatr.2025.6246 PMID 41636192 Open-access full textSource: ORCID

  6. NEURODEVELOPMENTAL OUTCOMES IN PRETERM INFANTS

    Eskisehir Medical Journal, Eskisehir City Hospital, 2024

    DOI 10.48176/esmj.2024.163 Open-access full textSource: ORCID

  7. Interstitial 3p25.3 deletion syndrome: 13 years'-long follow-up of an affected individual

    Clinical Dysmorphology, 2024

    DOI 10.1097/mcd.0000000000000503 PMID 38856647 1 citation (Scopus) Source: Scopus

  8. Hot water epilepsy with alone and spontaneous seizures in childhood

    Epilepsy Research, 2024

    DOI 10.1016/j.eplepsyres.2024.107418 PMID 39003967 Source: Scopus

  9. Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate

    Clinical Neurology and Neurosurgery, 2024

    DOI 10.1016/j.clineuro.2023.108045 PMID 38091702 Source: Scopus

  10. Temel Pediatrik Nöroloji: Tanı ve Tedavi 4. Cilt

    Akademisyen Kitabevi eBooks, 2023

    DOI 10.37609/akya.2033 Open-access full textSource: OpenAlex

  11. First report of tethered cord syndrome in a patient with Verheij syndrome

    Ophthalmic Genetics, 2023

    DOI 10.1080/13816810.2022.2121968 PMID 36134573 3 citations (Europe PMC) Source: ORCID

  12. The factors affecting neurodevelopmental outcomes in HIE

    Acta Neurologica Belgica, 2023

    DOI 10.1007/s13760-022-02126-5 PMID 36352199 5 citations (Scopus) Source: ORCID

  13. De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy

    Neurology Asia, 2023

    DOI 10.54029/2023mru Open-access full textSource: ORCID

  14. Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study

    Molecular Biology Reports, 2023

    DOI 10.1007/s11033-022-08148-9 PMID 36462087 Source: ORCID

  15. Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum

    Pediatric Neurology, 2023

    DOI 10.1016/j.pediatrneurol.2022.11.005 PMID 36493596 10 citations (Scopus) Source: ORCID

  16. A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy

    The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023

    DOI 10.1186/s41983-023-00608-8 1 citation (Scopus) Open-access full textSource: ORCID

  17. Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants

    Pediatric Neurology, 2023

    DOI 10.1016/j.pediatrneurol.2023.08.036 PMID 37806041 7 citations (Scopus) Source: Scopus

  18. A randomized controlled study: Evaluating the efficacy of a mobile application developed for mothers who have children with epilepsy in Turkiye

    Journal of Pediatric Nursing, 2023

    DOI 10.1016/j.pedn.2023.02.010 PMID 36870141 8 citations (Scopus) Source: Scopus

  19. A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance

    Neurology Asia, 2023

    DOI 10.54029/2023jyx 1 citation (Scopus) Open-access full textSource: Scopus

  20. The Novel Homozygous ADCY6 c.413G>A; p.R138H gene Variant Associated with Lethal Congenital Contracture Syndrome 8 in a Female Patient with Epilepsy and Pachygyria

    Hong Kong Journal of Paediatrics, 2023

    1 citation (Scopus) Source: Scopus

  21. Antiepileptic Drug Adverse Cutaneous Reaction in Childhood

    Journal of Pediatric Epilepsy, 2022

    DOI 10.1055/s-0042-1749344 1 citation (OpenAlex) Source: ORCID

  22. Is Levetiracetam Monotherapy Effective And Safe In Children With Epilepsy

    Eskisehir Medical Journal, Eskisehir City Hospital, 2022

    DOI 10.48176/esmj.2022.86 Open-access full textSource: ORCID

  23. Generalized tetanus in an eight-year-old girl: a case report

    The European Research Journal, 2022

    DOI 10.18621/eurj.1049854 1 citation (OpenAlex) Open-access full textSource: ORCID

  24. Case Report Presentation: Measles as the Cause of Cerebral Venous Sinus Thrombosis in Childhood

    Pediatric Academic Case Reports, 2022

    DOI 10.61107/pacr.2022.023 Open-access full textSource: ORCID

  25. A Novel Mutation in the TBC1D20 Gene with Associated Warburg Micro Syndrome

    Batı Karadeniz Tıp Dergisi, 2022

    DOI 10.29058/mjwbs.1024327 Open-access full textSource: ORCID

  26. Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

    Global Medical Genetics, 2022

    DOI 10.1055/s-0042-1743261 PMID 35707779 3 citations (Europe PMC) Open-access full textSource: ORCID

  27. COVID-19 Symptoms with Pre-Existing and Not Pre-Existing Neurological Disorders in Pediatrics

    Journal of Pediatric Infectious Diseases, 2022

    DOI 10.1055/s-0042-1748921 Source: ORCID

  28. Koolen-de Vries syndrome: A de novo missense KANSL1 variant

    Clinical Neurology and Neurosurgery, 2022

    DOI 10.1016/j.clineuro.2022.107444 PMID 36150256 2 citations (Scopus) Source: Scopus

  29. Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome

    Indian Journal of Ophthalmology, 2022

    DOI 10.4103/ijo.ijo_1061_22 PMID 35791240 3 citations (Scopus) Open-access full textSource: Scopus

  30. A novel splice-site variant in the MCPH1 gene manifests with autosomal recessive primary microcephaly

    Neurology Asia, 2022

    DOI 10.54029/2022vtk Open-access full textSource: Scopus

  31. Response to “SARS-CoV-2 related encephalitis requires documentation of the virus in the cerebrospinal fluid”

    Turkish Journal of Pediatrics, 2022

    DOI 10.24953/turkjped.2022.759-1 PMID 36583905 Open-access full textSource: Scopus

  32. Lethal encephalitis in a pediatric patient with SARS-CoV-2

    Turkish Journal of Pediatrics, 2022

    DOI 10.24953/turkjped.2021.1142 PMID 35899571 4 citations (Scopus) Open-access full textSource: Scopus

  33. Acute cerebellar ataxia in a child: Rotavirus coinfection with SARS-CoV-2

    Zeynep Kamil Medical Journal, 2022

    DOI 10.14744/zkmj.2022.00921 Source: OpenAlex

  34. A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation

    Neurology Asia, 2021

    DOI 10.54029/2021ryp 1 citation (Scopus) Open-access full textSource: ORCID

  35. Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus

    Egyptian Journal of Medical Human Genetics, 2021

    DOI 10.1186/s43042-021-00205-5 Open-access full textSource: Scopus

  36. Evaluation of clinical findings and treatment options of Sydenham chorea patients

    Journal of Surgery and Medicine, 2021

    DOI 10.28982/josam.804833 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  37. Nörokütan Hastalıkların Tarihi ve Sınıflandırması

    2021

    Source: OpenAlex

  38. Allen-Herndon-Dudley Sendromunda yeni Bir Hemizigot SLC16A2 nonsense mutasyonu

    DergiPark (Istanbul University), 2021

    Open-access full textSource: OpenAlex

  39. Çocukluk Çağında Narkolepsi

    2020

    Source: OpenAlex

  40. Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)

    Human Vaccines and Immunotherapeutics, 2019

    DOI 10.1080/21645515.2018.1526588 PMID 30235060 65 citations (Scopus) Open-access full textSource: ORCID

  41. Tüberoskleroz Kompleksi Hastalarının Klinik ve Demografik Özellikleri

    OSMANGAZİ JOURNAL OF MEDICINE, 2019

    DOI 10.20515/otd.594858 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  42. Diagnostic effectiveness of muscle biopsy in neuromuscular diseases; Four years retrospective critical review

    The Anatolian Journal of General Medical Research, 2019

    DOI 10.5222/terh.2019.99267 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  43. Febril Nöbet Geçiren Çocuklarda Akuaporin 4 Gen Polimorfizmi

    OSMANGAZİ JOURNAL OF MEDICINE, 2018

    DOI 10.20515/otd.469491 Open-access full textSource: OpenAlex

  44. Hot Water Epilepsy Successfully Treated with Daily Clobazam

    Pediatric Emergency Care, 2017

    DOI 10.1097/pec.0000000000000659 PMID 26959518 3 citations (Scopus) Source: ORCID

  45. Microcephaly-Lymphedema-Chorioretinal Dysplasia Syndrome: Two Case Reports

    International Journal of Clinical Pediatrics, 2017

    DOI 10.14740/ijcp275w 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  46. Nörofibromatozis Tip 1: 49 Olgunun Değerlendirilmesi

    Haydarpaşa Numune Eğitim ve Araştırma Hastanesi Tıp Dergisi, 2017

    1 citation (OpenAlex) Source: OpenAlex

  47. The evaluation of epilepsy and other contributing disorders in patients with cerebral palsy using the Gross Motor Function Classification System

    The European Research Journal, 2017

    DOI 10.18621/eurj.294051 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  48. Griscelli Syndrome with neurological deterioration: A case report.

    The Medical Journal of Okmeydani Training and Research Hospital, 2017

    DOI 10.5222/otd.2017.1117 1 citation (OpenAlex) Source: OpenAlex

  49. Hemi-meningitis with hemophagocytic lymphohistiocytosis

    Annals of Indian Academy of Neurology, 2016

    DOI 10.4103/0972-2327.165458 PMID 27570395 1 citation (Scopus) Open-access full textSource: ORCID

  50. Subcutaneous Fat Necrosis Associated with hypo/Hypercalcemia and Brachiall Plexopathy

    Journal of Dr Behcet Uz Children s Hospital, 2016

    DOI 10.5222/buchd.2016.081 Open-access full textSource: OpenAlex