Browsing by Author "Işıkay, Şedat"
Now showing items 1-6 of 6
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Marafi, Dana; Mitani, Tadahiro; Işıkay, Şedat; Hertecant, Jozef L.; Almannai, Mohammed; Manickam, Kandamurugu; Abou-Jamra, Rami; El-Hattab, Ayman W.; Rajah, Jaishen; Fatih, Jawid M.; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill Anne; Jhangiani, Shalini N.; Boerwinkle, Eric; Akdemir, Zeynep Coban; Erdin, Serkan; Hunter, Jill Vanessa; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R. (Wiley-Blackwell, 1 May 2020)Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G-protein-coupled ... -
Craniofacial morphometric measurements of children with celiac disease
Işıkay, Şedat; Bahşi, İlhan; Orhan, Mustafa; Kul, Seval; Kızılkan, Neşe; Kocamaz, Halil; Şan, Murat (Kowsar Medical Publishing Company, 2020)Objectives: To examine the craniofacial morphologic features of children with celiac disease and to investigate the presence of specific features in this disease. Methods: Totally 100 celiac patients between the ages of 3 ... -
Hereditary chin trembling
Işıkay, Şedat (Wolters Kluwer Medknow Publications, January-Ma)[No abstract available] -
Multiple cerebral hemorrhages during the course of Guillain-Barre syndrome: A case report
Işıkay, Şedat; Şirikçi, Akif (Wolters Kluwer Medknow Publications, April-June)Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy. In this report, we present a 3-year-old girl diagnosed with cortical and subcortical hemorrhage during the course of GBS who was treated with intravenous ... -
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
Link, Nichole; Chung, Hyunglok; Jolly, Angad; Withers, Marjorie A.; Tepe, Burak; Arenkiel, Benjamin R.; Shah, Priya S.; Krogan, Nevan J.; Aydın, Hatip; Geçkinli, Bilgen Bilge; Tos, Tülay; Işıkay, Şedat; Tüysüz, Beyhan; Mochida, Ganeshwaran H.; Thomas, Ajay X.; Clark, Robin Dawn; Mirzaa, Ghayda M.; Lupski, James R.; Bellen, Hugo J. (Cell Press, 2019-12-16)The apical Par complex, which contains atypical protein kinase C (aPKC), Bazooka (Par-3), and Par-6, is required for establishing polarity during asymmetric division of neuroblasts in Drosophila, and its activity depends ... -
Restless leg syndrome in children with celiac disease
Işıkay, Şedat; Işıkay, Nurgül; Per, Hüseyin; Çarman, Kürşat Bora; Kocamaz, Halil (Turkish Journal of Pediatrics, 2018)Celiac disease (CD) is an immune-mediated enteropathy triggered by ingestion of dietary gluten in genetically predisposed individuals. The aim of the study was to determine the prevalence of restless leg syndrome (RLS) in ...
