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ResearcherID: A-9714-2016

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Employment (1)

Dokuz Eylül Üniversitesi Tıp Fakültesi: Izmir, Izmir, TR

2023-05-02 to present | Assoc Prof, MD (Department of Pediatrics Division of Pediatric Neurology)
Employment
Source: Self-asserted source
ipek polat

Education and qualifications (2)

International Izmir Biomedicine and Genome Institute: Izmir, TR

2019-02-09 to present | PhD student (Molecular Biology And Genetics)
Education
Source: Self-asserted source
ipek polat

Dokuz Eylul Universitesi Tip Fakultesi: Izmir, Izmir, TR

2007-10-10 to 2012-05-10 (pediatrics)
Education
Source: Self-asserted source
ipek polat

Works (36)

Single sural nerve response: A reliable and practical method for diagnosis of diabetic peripheral neuropathy in children with type 1 diabetes

Journal of Diabetes Investigation
2025-03-20 | Journal article
DOI: 10.1111/jdi.70030
Contributors: Hüseyin Bahadır Şenol; Özge Yıldırım Şalbaş; Elif Naz Kadem; Mustafa Halk; Ayşe İpek Polat; Adem Aydın; Ayşe Semra Hız; Korcan Demir; Uluç Yiş
Source: check_circle
Crossref

An Unusual Presentation of Leber Hereditary Optic Neuropathy‐Plus Case Caused by a Novel DNAJC30 Variant

American Journal of Medical Genetics Part A
2025-02 | Journal article
DOI: 10.1002/ajmg.a.63902
Contributors: Hüseyin Bahadır Şenol; Didem Soydemir; Ayşe İpek Polat; Adem Aydın; Ayşe Semra Hız; Uluç Yiş
Source: check_circle
Crossref

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy

Brain and Behavior
2025-01 | Journal article
DOI: 10.1002/brb3.70221
Contributors: Hüseyin Bahadır Şenol; Gizem Yıldız; Ayşe İpek Polat; Adem Aydın; Ayşe Semra Hız; Alper Soylu; Uluç Yiş
Source: check_circle
Crossref

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
2024-03-06 | Journal article
DOI: 10.1016/j.gim.2024.101117
PMID: 38459834
PMC: PMC11180951
Contributors: Camila Armirola-Ricaurte; Zonnekein N; Georgios Koutsis; Silvia Amor Barris; Pelayo-Negro AL; Atkinson D; Stephanie Efthymiou; Turchetti V; Dinopoulos A; Garcia A et al.
Source: Self-asserted source
ipek polat

Importance of Vitamin D Status and Nerve Conduction in Pediatric Cystic Fibrosis Patients

Journal of Pediatric Neurology
2023-12 | Journal article
DOI: 10.1055/s-0042-1758056
Contributors: İpek Polat; Seda Şirin Köse; Müge Ayanoğlu; Derya Okur; Erhan Bayram; Uluç Yiş; Suna Asilsoy; Semra Hız Kurul
Source: check_circle
Crossref

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Brain : a journal of neurology
2023-12-01 | Journal article
DOI: 10.1093/brain/awad254
PMID: 37516995
PMC: PMC10690022
Contributors: Lindsay A Wilson; William Macken; Perry LD; Christopher Record; Katherine Schon; Rodrigo Frezatti; Sharika Raga; Kireshnee Naidu; Köken ÖY; Polat I et al.
Source: Self-asserted source
ipek polat

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Brain : a journal of neurology
2022-05-01 | Journal article
DOI: 10.1093/brain/awab395
PMID: 34791078
PMC: PMC9128813
Contributors: Hiz Kurul S; Yavuz Oktay; Töpf A; Szabó NZ; Güngör S; Yaramis A; Sonmezler E; Leslie Matalonga; Yis U; Katherine Schon et al.
Source: Self-asserted source
ipek polat

Inflammation and endothelial dysfunction in pediatric migraine patients

Pediatrics International
2022-01 | Journal article
DOI: 10.1111/ped.14946
Contributors: İpek Polat; Pakize Karaoğlu; Ali Rıza Şişman; Uluç Yiş; Semra Hız Kurul
Source: check_circle
Crossref

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

American journal of human genetics
2021-12-01 | Journal article
DOI: 10.1016/j.ajhg.2021.11.013
PMID: 34861176
PMC: PMC8715173
Contributors: Ghosh SG; Becker K; Huang H; Salazar TD; Guoliang Chai; Salpietro V; Al-Gazali L; Waisfisz Q; Haicui Wang; Vaux KK et al.
Source: Self-asserted source
ipek polat

Clinical predictors of drug-resistant epilepsy in children

Turkish journal of medical sciences
2021-06-28 | Journal article
DOI: 10.3906/sag-2010-27
PMID: 33600098
PMC: PMC8283437
Contributors: Pakize Karaoğlu; uluç yiş; Polat İpek; muge ayanoglu; Ayşe Semra Hız
Source: Self-asserted source
ipek polat

Risk Factors of Post-Stroke Epilepsy in Children; Experience from a Tertiary Center and a Brief Review of the Literature

Journal of Stroke and Cerebrovascular Diseases
2021-01 | Journal article
DOI: 10.1016/j.jstrokecerebrovasdis.2020.105438
Contributors: İpek Polat; Uluç Yiş; Müge Ayanoğlu; Derya Okur; Pınar Edem; Cem Paketçi; Erhan Bayram; Semra Hız Kurul
Source: check_circle
Crossref

Autosomal recessive variants in <i>TUBGCP2</i> alter the γ-tubulin ring complex leading to neurodevelopmental disease.

iScience
2020-12-30 | Journal article
DOI: 10.1016/j.isci.2020.101948
PMID: 33458610
PMC: PMC7797523
Contributors: Gungor S; Yavuz Oktay; Hiz S; Alvaro Aranguren-Ibáñez; Kalafatcilar I; Ahmet Yaramis; Ezgi Karaca; Yis U; Ece Sonmezler; Burcu Ekinci et al.
Source: Self-asserted source
ipek polat

Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in Rats

Neurochemical Research
2020-08-22 | Journal article
DOI: 10.1007/s11064-020-03056-5
Contributors: İpek Polat; Serap Cilaker Mıcılı; Meryem Çalışır; Erhan Bayram; Uluç Yiş; Müge Ayanoğlu; Derya Okur; Pınar Edem; Cem Paketçi; Kazım Tuğyan et al.
Source: check_circle
Crossref

<i>COL4A1</i>-related autosomal recessive encephalopathy in 2 Turkish children.

Neurology. Genetics
2020-01-10 | Journal article
DOI: 10.1212/nxg.0000000000000392
PMID: 32042920
PMC: PMC6975172
Contributors: Yaramis A; Lochmüller H; Töpf A; Sonmezler E; Elmasnur Yılmaz; Hiz S; Yis U; Gungor S; Ipek Polat A; Edem P et al.
Source: Self-asserted source
ipek polat

Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms.

The Journal of international medical research
2018-10-10 | Journal article
DOI: 10.1177/0300060518803028
PMID: 30304968
PMC: PMC6384474
Contributors: Özbek A; Göçmen Mas N; SERKAN TURAN; Ay B; Serim Demirgören B; Nilüfer Yonguç G; Karabekir S; İpek Polat A; Semra Hız A; Gencer Kıdak Ö
Source: Self-asserted source
ipek polat

Retrospective analysis of children with myelin oligodendrocyte glycoprotein antibody-related disorders.

Multiple sclerosis and related disorders
2018-09-10 | Journal article
DOI: 10.1016/j.msard.2018.07.022
PMID: 30212767
Contributors: Konuskan B; miraç yıldırım; Rahsan Gocmen; Okur TD; Polat I; Kilic H; Sema Saltık; Ozturk Z; Gucuyener K; Altunbasak S et al.
Source: Self-asserted source
ipek polat

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.

Human mutation
2018-07-25 | Journal article
DOI: 10.1002/humu.23560
PMID: 29858556
Contributors: Mert Karakaya; Storbeck M; Strathmann EA; Delle Vedove A; Hölker I; Altmueller J; Naghiyeva L; Schmitz-Steinkrüger L; Aikaterini Vezyroglou; Motameny S et al.
Source: Self-asserted source
ipek polat

Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant.

Pediatrics and neonatology
2018-01-31 | Journal article
DOI: 10.1016/j.pedneo.2018.01.011
PMID: 29398553
Contributors: semra gürsoy; Ataman E; Bozkaya ÖG; Köse E; Ayanoğlu M; Polat Aİ; Arslan N; Kurul SH; Erçal D
Source: Self-asserted source
ipek polat

Changes of primary headache related white matter lesions in pediatric patients.

The Turkish journal of pediatrics
2018-01-01 | Journal article
DOI: 10.24953/turkjped.2018.04.004
PMID: 30859761
Contributors: Bayram E; Yiş U; Paketçi C; Okur D; Polat İ; Çakmakcı H; Hız S; Anlar B
Source: Self-asserted source
ipek polat

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Brain : a journal of neurology
2017-10-01 | Journal article
DOI: 10.1093/brain/awx222
PMID: 28969388
PMC: PMC6272822
Contributors: Mert Karakaya; Mazaheri N; Polat I; Bharucha-Goebel D; Donkervoort S; Maroofian R; Gholamreza Shariati; Hoelker I; Monaghan K; Winchester S et al.
Source: Self-asserted source
ipek polat

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Journal of child neurology
2017-05-03 | Journal article
DOI: 10.1177/0883073817705252
PMID: 28464723
PMC: PMC5655993
Contributors: Yiş U; Becker K; Kurul SH; Uyanik G; Bayram E; Haliloğlu G; Polat Aİ; Ayanoğlu M; Okur D; Tosun AF et al.
Source: Self-asserted source
ipek polat

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.

The Turkish journal of pediatrics
2017-01-01 | Journal article
DOI: 10.24953/turkjped.2017.03.018
PMID: 29376585
Contributors: Yiş U; Dixit V; Işıkay S; Mert Karakaya; Baydan F; Diniz G; Polat İ; Hız-Kurul S; Çırak S
Source: Self-asserted source
ipek polat

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Brain & development
2016-11-19 | Journal article
DOI: 10.1016/j.braindev.2016.11.002
PMID: 27876398
Contributors: Karaoglu P; Quizon N; Pergande M; Haicui Wang; Polat AI; Ersen A; Özer E; Willkomm L; Hiz Kurul S; Heredia R et al.
Source: Self-asserted source
ipek polat

Schwartz-Jampel syndrome with gastroduodenal bleeding.

Journal of pediatric neurosciences
2016-07-01 | Journal article
DOI: 10.4103/1817-1745.193351
PMID: 27857801
PMC: PMC5108135
Contributors: Polat İ; Karaoğlu P; Yiş U; Kurul SH
Source: Self-asserted source
ipek polat

Myelin Oligodendrocyte Glycoprotein Antibody Persistency in a Steroid-Dependent ADEM Case.

Pediatrics
2016-05-01 | Journal article
DOI: 10.1542/peds.2015-1958
PMID: 27244783
Contributors: Polat İ; Yiş U; Karaoğlu P; Ayanoğlu M; Öztürk T; HANDAN GULERYUZ; Kurul SH
Source: Self-asserted source
ipek polat

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Clinical immunology (Orlando, Fla.)
2015-10-21 | Journal article
DOI: 10.1016/j.clim.2015.10.005
PMID: 26499378
Contributors: Mrinmoy Sanyal; Morimoto M; Baradaran-Heravi A; Choi K; Neeraja Kambham; Jensen K; Suparna Dutt; Dionis-Petersen KY; Liu LX; Felix K et al.
Source: Self-asserted source
ipek polat

An 11-Year-Old Boy with Headache, Fever, and Neck Pain.

Pediatric annals
2015-10-01 | Journal article
DOI: 10.3928/00904481-20151012-05
PMID: 26473422
Contributors: Yis U; Polat I; Karaoglu P; Ayanaoglu M; Unsal E; Ozkutuk AA; Kurul SH
Source: Self-asserted source
ipek polat

Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.

The Turkish journal of pediatrics
2015-09-01 | Journal article
PMID: 27411420
Contributors: Polat Aİ; Yiş U; Ayanoğlu M; Hız AS; Güleryüz H; Öztürk Atasoy T; Boerkoel CF
Source: Self-asserted source
ipek polat

Williams Syndrome with Infantile Spasms

The Indian Journal of Pediatrics
2015-08 | Journal article
DOI: 10.1007/s12098-015-1740-4
Source: check_circle
Crossref

Life-Threatening and Rare Adverse Effects of Phenytoin.

Pediatric emergency care
2015-07-01 | Journal article
DOI: 10.1097/pec.0000000000000495
PMID: 26148111
Contributors: Polat I; Karaoglu P; Ayanoglu M; Yis U; Hiz S
Source: Self-asserted source
ipek polat

Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases.

Journal of pediatric neurosciences
2015-04-01 | Journal article
DOI: 10.4103/1817-1745.159187
PMID: 26167209
PMC: PMC4489049
Contributors: Karaoğlu P; Polat Aİ; Yiş U; Hız S
Source: Self-asserted source
ipek polat

Importance of acrocyanosis in delayed walking.

Journal of pediatric neurosciences
2015-01-01 | Journal article
DOI: 10.4103/1817-1745.154368
PMID: 25878756
PMC: PMC4395958
Contributors: Yiş U; Polat İ; Karakaya P; Ayanoğlu M; Hiz AS
Source: Self-asserted source
ipek polat

An infant with hypomotor seizures and cutaneous lesions.

Acta neurologica Belgica
2014-12-31 | Journal article
DOI: 10.1007/s13760-014-0414-8
PMID: 25549608
Contributors: Yiş U; Ayanoğlu M; Polat Aİ; HANDAN GULERYUZ; Kurul SH
Source: Self-asserted source
ipek polat

Chronic spinal epidural hematoma

J Pediatr
2014-06 | Journal article
DOI:

10.1016/j.jpeds.2013.08.043
Source: Self-asserted source
ipek polat

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.

Journal of child neurology
2014-04-25 | Journal article
DOI: 10.1177/0883073814530499
PMID: 24771578
Contributors: Yiş U; Ezgü FS; Karakaya P; Polat İ; Arslan N; Tufan Cankaya; Bozkaya ÖG; Kurul SH
Source: Self-asserted source
ipek polat

Assessment of Neuropsychological Late Effects in

Pediatric Hematology and Oncology
2013-05-04 | Journal article
Source: Self-asserted source
ipek polat
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