Search Results - "Sager, Gunes"

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype by Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Günbey, Hediye Pınar, Akın, Yasemin

“…The biallelic variations of the LNPK gene are associated with the “neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum” phenotype…”
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Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome by Teralı, Kerem, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Çebi, Alper Han

“…Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring…”
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Clinical Findings and Optical Coherence Tomography Measurements of Pediatric Patients with Papilledema and Pseudopapilledema by Kaplan, Ayşin Tuba, Öskan Yalçın, Sibel, Sağer, Safiye Güneş

“…ObjectivesTo compare the clinical findings and multimodal imaging of pediatric patients diagnosed with papilledema and pseudopapilledema with those of healthy…”
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Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot–Marie–Tooth disease by Kaplan, Aysin Tuba, Oskan Yalcin, Sibel, Sager, Safiye Gunes, Türkyılmaz, Ayberk, İnan, Rahşan

“…Purpose To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot–Marie–Tooth (CMT)…”
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Evaluation of cases with cerebral thrombosis in children by Ünver, Olcay, Ekinci, Gazanfer, Kutlubay, Büşra Işın, Gülten, Thomas, Güneş, Sağer, Hacıfazlıoğlu, Nilüfer Eldeş, Türkdoğan, Dilşad

“…We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical…”
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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 by Sager, Safiye Gunes, Turkyilmaz, Ayberk, Gunbey, Hediye Pınar, Karatoprak, Elif Yuksel, Aslan, Elif Sibel, Akın, Yasemin

“…Beck-Fahrner syndrome is caused by homozygous or heterozygous mutations in TET3 on chromosome 2p13. The general characteristics of this syndrome include…”
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Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing by Türkyılmaz, Ayberk, Kaplan, Ayşin Tuba, Öskan Yalçın, Sibel, Sağer, Safiye Güneş, Şimşek, Şaban

“…Purpose The present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES) analysis…”
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A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature by Turkyilmaz, Ayberk, Sager, Gunes

“…The elongator complex consists of 6 highly conserved subunit proteins and is indispensable for various cellular functions, such as transcription elongation,…”
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Correction to: HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies by Sager, Gunes, Turkyilmaz, Ayberk, Ates, Esra Arslan, Kutlubay, Busra

“…A correction to this paper has been published: https://doi.org/10.1007/s13760-021-01685-3…”
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HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies by Sager, Gunes, Turkyilmaz, Ayberk, Ates, Esra Arslan, Kutlubay, Busra

“…Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of conditions that are characterized by lower limb spasticity and…”
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Auditory phoneme discrimination, articulation, and language disorders in patients with genetic epilepsy with febrile seizures plus: A case-control study by Sager, Gunes, Cetin, Beyza Sungur, Cag, Yakup, Pinar, Zeynep Vatansever, Akin, Yasemin

“…•Genetic epilepsy with febrile seizures plus (GEFS+) is an epilepsy syndrome with clinical heterogeneity.•Patients with GEFS+ have a significantly high…”
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Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population by Turkdogan, Dilsad, Turkyilmaz, Ayberk, Sager, Gunes, Ozturk, Gulten, Unver, Olcay, Say, Merve

“…To identify genetic causes for early infantile epileptic encephalopathies (EIEE) in Turkish children with mostly consanguineous parents. In a selected EIEE…”
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Neuropsychiatric comorbidities in genetic/idiopathic generalized epilepsies and their effects on psychosocial outcomes by Sager, Gunes, Vatansever, Zeynep, Batu, Utku, Çağ, Yakup, Akin, Yasemin

“…•ADD, ODD, and low academic performance are neuropsychiatric comorbidities of GGE.•Onset of psychiatric symptoms prior the onset of epilepsy, photosensitivity,…”
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A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy by Turkdogan, Dilsad, Turkyilmaz, Ayberk, Gormez, Zeliha, Sager, Gunes, Ekinci, Gazanfer

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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies by Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian G E L, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, P Y Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza

“…Abstract LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse…”
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Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease by Karakaya, Taner, Turkyilmaz, Ayberk, Sager, Gunes, Inan, Rahsan, Yarali, Oguzhan, Cebi, Alper Han, Akin, Yasemin

“…Charcot-Marie-Tooth (CMT) disease represents a distinct subgroup of inherited peripheral neuropathies with a significant prevalence throughout the world and…”
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The course of sleep habits in newly diagnosed epilepsy in children: A prospective study by Vatansever Pınar, Zeynep, Sager, Gunes, Çağ, Yakup, Çakın Memik, Nursu, Kutlubay, Büşra, Akın, Yasemin

“…•Receiving antiseizure medication had significantly positive affect on sleep problems in children with epilepsy.•Focal epilepsy group reported a significant…”
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Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) by Sager, Gunes, Takis, Gulnur, Vatansever Pinar, Zeynep, Duzkalir, Hanife, Turkyilmaz, Ayberk, Çağ, Yakup, Akin, Yasemin

“…Epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) or the newly named Epileptic encephalopathy with spike-and-wave activation in sleep…”
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Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood by Sager, Gunes, Türkyilmaz, Ayberk, Günbey, Hediye Pınar, Taş, İbrahim, Ozhelvaci, Fatih, Akin, Yasemin

“…PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 with microcephaly (HLD10). The aim of the…”
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Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome by Geckinli, Bilge, Turkyilmaz, Ayberk, Alavanda, Ceren, Sager, Gunes, Arslan Ates, Esra, Soylemez, Mehmet Ali, Arman, Ahmet

“…Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum…”
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