Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Autor: Turkyilmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Sager SG; Department of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, Health Science University İstanbul, İstanbul, Türkiye., Terali K; Department of Medical Biochemistry, Cyprus Health and Social Science University Faculty of Medicine, Guzelyurt, Cyprus., Kart PO; Clinics of Pediatric Neurology, Trabzon Kanuni Training and Research Hospital, Health Science University, Trabzon, Türkiye., Kamasak T; Department of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Ayaz A; Department of Medical Genetics, Genetic Diseases Assessment Center Memorial Sisli Hospital, İstanbul, Türkiye., Cebi AH; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Cansu A; Department of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye.

Publikováno v: Clinical genetics [Clin Genet] 2024 Dec 11. Date of Electronic Publication: 2024 Dec 11.

A case of ocular flutter associated with sole anti-sulphatide antibody positivity: successful treatment with intravenous immunoglobulin in a pediatric patient.

Autor: Akcay M; Department of Pediatrics, University of Health Sciences, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey. mrveakcy@gmail.com., Sager SG; Department of Pediatric Neurology, University of Health Sciences, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey., Kaplan AT; Department of Ophthalmology, University of Health Sciences, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey., Alomari O; University of Health Sciences, Hamidiye International School of Medicine, Istanbul, Turkey., Akin Y; Department of Pediatrics, University of Health Sciences, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey.

Publikováno v: Acta neurologica Belgica [Acta Neurol Belg] 2024 Dec; Vol. 124 (6), pp. 2063-2065. Date of Electronic Publication: 2024 Sep 28.

Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders.

Autor: Alomari O; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey., Ertan SN; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey., Mokresh ME; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey., Yazicilar E; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey., Pourali M; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey., Akyokus FE; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey., Sager SG; Clinics of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, Istanbul, Turkey., Cag Y; Department of Pediatrics, University of Health Sciences Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63855. Date of Electronic Publication: 2024 Aug 21.

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep.

Autor: Sager SG; Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey. Electronic address: sgunessenturk@gmail.com., Turkyilmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey., Gunbey HP; Department of Radiology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey., Karatoprak EY; Department of Pediatric Neurology, Faculty of Medicine, Istanbul Medeniyet University, Istanbul, Turkey., Aslan ES; Department of Molecular Biology and Genetics, Biruni University, İstanbul, Turkey., Akın Y; Department of Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey.

Publikováno v: Brain & development [Brain Dev] 2023 Feb; Vol. 45 (2), pp. 140-145. Date of Electronic Publication: 2022 Sep 30.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

Autor: Fogarasi A; Child Neurology Department, Bethesda Children's Hospital, Budapest, Hungary., Fazzi E; Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Smorenburg ARP; Department of Specialized Nutrition, Danone Nutricia Research, Utrecht, The Netherlands., Mazurkiewicz-Beldzinska M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland., Dinopoulos A; 3rd Department of Pediatrics, Attikon General Hospital, University of Athens, Athens, Greece., Pobiecka A; Department of Pediatrics, University Hospital Trnava, Slovakia., Schröder-van den Nieuwendijk D; Department of Dietetics, Roessingh Rehabilitation Centre, Enschede, The Netherlands., Kraus J; Department of Child Neurology, University Hospital Motol, Czech Republic., Tekgül H; Ege University School of Medicine, Pediatric Neurology, Izmir, Turkey., Kraus J; Department of Child Neurology, 2nd Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic., Dinopoulos A; Pediatric Neurology Unit, 3rd Department of Pediatrics, University of Athens, Attikon General Hospital, Athens., Koutsaki M; Pediatric Neurology Unit, 3rd Department of Pediatrics, University of Athens, Attikon General Hospital, Athens., Fogarasi A; Bethesda Children's Hospital, Budapest., Baranello G; Fondazione IRCCS, Neurological Institute 'Carlo Besta' Milan., Bertoli S; International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan., Caramaschi E; Department of Medical and Surgical Sciences of Mother, Children and Adults, Pediatric Unit, University of Modena and Reggio Emilia, Modena., Cordelli DM; Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna., De Amicis R; International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan., Fazzi E; ASST Spedali Civili, Brescia, and University of Brescia, Brescia, Italy., Forchielli ML; Pediatric Gastroenterology and Nutrition Clinic, AO Sant'Orsola - Malpighi, University of Bologna., Guerra A; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena., Lividini A; Child Neurology and Psychiatry Unit, S. Orsola Hospital, University of Bologna., Marchiò M; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena., Rossi A; Child and Adolescent Neurology and Psychiatry Unit, Children Hospital, ASST Spedali Civili - Brescia., Nieuwendijk DSD; Department of Dietetics, Roessingh Rehabilitation Centre, Enschede, The Netherlands., Fliciński J; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences., Gurda B; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences., Lemska A; Department of Developmental Neurology, Medical University of Gdańsk., Matheisel A; Department of Developmental Neurology, Medical University of Gdańsk., Mazurkiewicz-Beldzinska M; Department of Developmental Neurology, Medical University of Gdańsk., Niwinska Z; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences., Pawłowicz M; Department of Developmental Neurology, Medical University of Gdańsk.; (current affiliations: Department of Pediatric Neurology.; Provincial Specialist Children's Hospital in Olsztyn, Olsztyn.; Department of Pathophysiology, Faculty of Medicine, Warmia and Mazury University in Olsztyn, Olsztyn, Poland)., Sawicka A; Department of Developmental Neurology, Medical University of Gdańsk., Steinborn B; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences., Szmuda M; Department of Developmental Neurology, Medical University of Gdańsk., Winczewska-Wiktor A; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences., Zawadzka M; Department of Developmental Neurology, Medical University of Gdańsk., Pobiecka A; Department of Pediatrics, University Hospital Trnava, Slovakia., Arhan E; Gazi University School of Medicine/Neurology, Gazi., Aydin K; Gazi University, School of Medicine, Pediatric Neurology, Ankara., Bayram E; Dokuz Eylul University School of Medicine, Pediatric Neurology, Izmir., Carman KB; Division of Pediatric Intensive Care Unit, Eskişehir Osmangazi University Medical Faculty., Edem P; Dokuz Eylul University School of Medicine, Pediatric Neurology, Izmir., Ertem D; Marmara University School of Medicine/Gastroenterology, Istanbul., Goktas ÖA; Ankara University School of Medicine/Neurology Ankara., Gungor S; Inonu University School of Medicine/Neurology, Malatya., Haliloglu G; Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara., Kansu A; Ankara University School of Medicine/Gastroenterology, Ankara., Kömür M; Mersin University School of Medicine, Mersin., Mutlu A; Hacettepe University, Faculty of Physical Therapy and Rehabilitation/Developmental and Early Physiotherapy Unit, Ankara., Kırsaçlıoğlu CT; Ankara University School of Medicine/Gastroenterology, Ankara., Okuyaz Ç; Division of Pediatric Neurology, Faculty of Medicine, Mersin University, Mersin., Özgör B; Inonu University School of Medicine, Malatya., Ozturk Y; Dokuzeylul University School of Medicine/Gastroenterology, Izmir., Sager SG; Marmara University School of Medicine/Gastroenterology, Istanbul., Sarıgeçili E; Mersin University School of Medicine, Mersin., Selimoglu MA; Inonu University School of Medicine/Pediatric Gastroenterology, Malatya., Serin HMÖ; Ege University School of Medicine/Neurology, Izmir., Teber ST; University of Ankara Faculty of Medicine, Department of Child Neurology, Ankara., Tekgül H; Ege University School of Medicine, Pediatric Neurology, Izmir., Thomas G; Marmara University School of Medicine/Gastroenterology, Istanbul., Turkdogan D; Marmara University School of Medicine/Neurology Istanbul., Volkan B; Marmara University School of Medicine/Gastroenterology, Istanbul., Yarar C; Department of Pediatric Neurology, Eskişehir Osmangazi University School of Medicine, Eskişehir., Yilmaz SK; Ege University School of Medicine/Neurology, Izmir.

Publikováno v: Disability and rehabilitation [Disabil Rehabil] 2022 Nov; Vol. 44 (22), pp. 6668-6675. Date of Electronic Publication: 2021 Sep 02.