Researcher:
Tekgül, Şeyma

Profile Picture
ORCID

Job Title

Researcher

First Name

Şeyma

Last Name

Tekgül

Name

Name Variants

Tekgül, Şeyma

Email Address

Birth Date

Filters

2020 - 202411

Advanced Search

Filter by

Settings

Researcher Of Publications: search.filters.isAuthorOfPublication.faad3862-9b86-42ab-9c22-88a79985e55e

Search Results

Now showing 1 - 10 of 11
  • Placeholder
    PublicationMetadata only
    Non-GAA repeat expansions in FGF14 are likely not pathogenic—reply to: “shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a chilean family”
    (John Wiley and Sons Inc, 2023) Pellerin, David; Iruzubieta, Pablo; Danzi, Matt C.; Ashton, Catherine; Dicaire, Marie-Josée; Wandzel, Marion; Roth, Virginie; Lamont, Phillipa J.; Bonnet, Céline; Renaud, Mathilde; Synofzik, Matthis; Zuchner, Stephan; Brais, Bernard; Başak, Nazlı A.; Houlden, Henry; Tekgül, Şeyma; Graduate School of Sciences and Engineering; Animal Laboratory
    N/A
  • Placeholder
    PublicationMetadata only
    Successful infliximab treatment in siblings with netherton syndrome: unveiling a novel SPINK5 gene variant and literature review
    (Wiley, 2024) Salıcı, Nazmiye Selin; Özcanlı, Adil; Rasulova, Günel; Başak, Ayşe Nazlı; Tekgül, Şeyma; Vural, Seçil; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Sciences and Engineering; Koç University Hospital
    Netherton syndrome (NS) is a rare autosomal recessive genodermatosis. In this article, we present two siblings with NS who harbour a novel variant in the SPINK5 gene and were treated with infliximab infusions. Both patients exhibited the characteristic clinical triad of NS, and their whole exome sequencing analysis revealed a homozygous variant, c.1820+53G>A, in the SPINK5 gene. Notably, this is the first documented instance of homozygosity for this particular variant. Despite the absence of a specific treatment, both patients achieved total clearance of the skin lesions, and a significant decrease in total IgE levels was documented.
  • Placeholder
    PublicationMetadata only
    Co-existence of mutations in PRRT2 and ABCC6 genes in a Turkish family
    (Türkiye Klinikleri, 2020) Şenel, Gülçin Benbir; Tezen, Didem; Apaydın, Hülya; Tekgül, Şeyma; Başak, Ayşe Nazlı; Master Student; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Sciences and Engineering; School of Medicine; 63142; 1512
    Paroxysmal kinesigenic choreoathetosis (PKC) is an inherited disorder with an autosomal dominant mode of inheritance, caused mostly by the mutations in PRRT2 (proline-rich transmembrane protein-2) gene, located on chromosome 16. Pseudoxanthoma elasticum (PXE) is a hereditary metabolic disease with autosomal recessive inheritance resulting from the mutations in the ABCC6 (ATP-Binding Cassette, Subfamily C, Member 6) gene, located also on chromosome 16. Here we present a female patient with familial paroxysmal kinesigenic dyskinesia and benign familial infantile convulsions (BFIC), in whom both a heterozygous truncating frameshift mutation in the PRRT2 gene and a heterozygous missense mutation in the ABCC6 gene were demonstrated. The co-existence of these two mutations has not been reported in the literature. Although the clinical symptomatology of PXE was not present in our patient, some family members of our index case had. Here we present a Turkish family with two different mutations on the same chromosome, namely PRRT2 and ABCC6 mutations. However, because these two mutations have separate parental inheritance and are not in linkage disequilibrium, the co-existence was reported as co-incidental.
  • Placeholder
    PublicationMetadata only
    Two cases of early-onset autosomal recessive spastic ataxia of charlevoix-saguenay diagnosed in adulthood
    (Elsevier, 2021) Şahin, Turgut; Karaarslan, Fatma Tuğra; Yılmaz, Rezzak; Akbostancı, Muhittin Cenk; Tekgül, Şeyma; Başak, Ayşe Nazlı; Master Student; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Sciences and Engineering; School of Medicine; 63142; 1512
    N/A
  • Placeholder
    PublicationMetadata only
    Ataxia telangiectasia like disorder: another dopa-responsive disorder look-alike?
    (Elsevier Sci Ltd, 2020) Ser, Merve Hazal; Gündüz, Ayşegül; Kızıltan, Meral E.; Kızıltan, Güneş; Tekgül, Şeyma; Başak, Ayşe Nazlı; Master Student; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Sciences and Engineering; School of Medicine; 63142; 1512
    N/A
  • Placeholder
    PublicationMetadata only
    Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
    (Wiley, 2022) Çakar, Arman; İnci, Meltem; Acarlı, Ayşe Nur Özdağ; Comu, Sinan; Candayan, Ayşe; Battaloğlu, Esra; Başak, Durmuş, Hacer; Parman, Yeşim; Tekgül, Şeyma; Başak, Ayşe Nazlı; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University Hospital; 63142; 1512
    Objectives Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by the SACS gene variants. Main clinical features include early-onset and progressive cerebellar ataxia, spasticity, sensorimotor polyneuropathy. However, the phenotypic spectrum expanded with the increased availability of next-generation sequencing methods. Materials and Methods Herein, we describe the clinical features of nine patients from seven unrelated families with SACS variants from the cohort of the Neuromuscular Disorders Unit of the Neurology Department of the Istanbul University, Istanbul Faculty of Medicine. Results Seven patients were male. Seven patients in our cohort had disease onset in the first decade of life. Eight patients were born to consanguineous marriages. Distal weakness in the lower limbs was a prominent feature in all of our patients. Seven patients had ataxia, and six patients had spasticity. Interestingly, one patient showed an isolated Charcot-Marie-Tooth-like phenotype. Five patients showed sensorimotor demyelinating polyneuropathy in the nerve conduction studies. Linear pontine hypointensity was the most frequent cranial magnetic resonance imaging (MRI) abnormality. Two patients with a later disease onset had a homozygous c.11542_11544delATT (p.Ile3848del) variant. The rest of the identified variants were scattered throughout the SACS gene. Conclusions Atypical clinical features in our patients highlight that the phenotypic spectrum of ARSACS can be observed in a wide range.
  • Placeholder
    PublicationMetadata only
    The complex molecular basis of dystonias in a Turkish cohort
    (Springer, 2020) Yapıcı, Z.; Tekgül, Şeyma; Şimşir, Gülşah; Başak, Ayşe Nazlı; Master Student; Master Student; Faculty Member; Graduate School of Sciences and Engineering; Graduate School of Sciences and Engineering; School of Medicine; 63142; N/A; 1512
    N/A
  • Placeholder
    PublicationMetadata only
    Molecular complexity of spastic ataxias and hereditary spastic paraplegias in Turkey
    (Springernature, 2020) Apaydin, H.; N/A; Şimşir, Gülşah; Tekgül, Şeyma; Ertan, Fatoş Sibel; Çepni, Ece; Master Student; Master Student; Faculty Member; PhD Student; Graduate School of Sciences and Engineering; Graduate School of Sciences and Engineering; School of Medicine; Graduate School of Health Sciences; N/A; 63142; 112829; N/A
    N/A
  • Placeholder
    PublicationMetadata only
    Late-onset dopa-responsive dystonia: a case report
    (Wiley, 2020) N/A; N/A; Çakmak, Özgür Öztop; Ertan, Fatoş Sibel; Tekgül, Şeyma; Başak, Ayşe Nazlı; Faculty Member; Faculty Member; Master Student; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; School of Medicine; Graduate School of Sciences and Engineering; School of Medicine; 299358; 112829; 63142; 1512
    N/A
  • Placeholder
    PublicationMetadata only
    VPS13D-based disease: expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population
    (Elsevier Masson s.r.l., 2022) Kahyaoğlu, Bülent; Kaya, Zeynep Ece; N/A; Çakmak, Özgür Öztop; Şimşir, Gülşah; Tekgül, Şeyma; Aygün, Murat Serhat; Gökler, Ozan; Palvadeau, Robin Jerome; Başak, Ayşe Nazlı; Ertan, Fatoş Sibel; Faculty Member; Master Student; Researcher; Teaching Faculty; Teaching Faculty; Researcher; Faculty Member; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Sciences and Engineering; N/A; School of Medicine; School of Medicine; College of Sciences; School of Medicine; 299358; N/A; 63142; 291692; 311179; N/A; 1512; 112829
    VPS13D is a recently described gene. Worldwide, only 15 families with 23 affected individuals have been reported with a VPS13D-based disease. Mutated VPS13D causes a complex phenotype with a hyperkinetic movement disorder and ataxia, especially in childhood onset disease. The clinical phenotype of the rare adult-onset cases consists of cerebellar ataxia and/or spastic paraplegia. Here, we report the extensive clinical, laboratory and genetic findings of two offspring from consanguineous parents, with ages of disease onset at 57 and 49 with VPS13D-based ataxia. Although conventional magnetic resonance imaging showed mild cerebellar and cerebral atrophy, diffusion tensor imaging, applied for the first time for VPS13D patients, revealed prominent atrophy in U fibers and cerebellopontine tracts. Whole exome sequencing analysis revealed a biallelic Ala4210Val mutation in the VPS13D, reported only once in the literature. Complementary screening of our in-house database consisting of 295 ataxia and hereditary spastic paraplegia patients revealed two further ataxia patients with novel VPS13D variants. Screening the control cohort for VPS13D variants revealed one asymptomatic individual carrying a novel VPS13D variant. In this study, the phenotypic spectrum of VPS13D-based disease is expanded with the description of pre-senile onset predominant ataxia. Further, with the additional novel mutations described, the report is expected to contribute to the understanding of the yet elusive phenotype-genotype correlations in the rare VPS13D-based movement disorder.