{"id":542,"date":"2026-08-19T10:04:27","date_gmt":"2026-08-19T10:04:27","guid":{"rendered":"https:\/\/www.pinargencpinar.com\/?page_id=542"},"modified":"2026-08-20T20:22:13","modified_gmt":"2026-08-20T20:22:13","slug":"norogenetik","status":"publish","type":"page","link":"https:\/\/www.pinargencpinar.com\/en\/norogenetik\/","title":{"rendered":"N\u00f6rogenetik"},"content":{"rendered":"
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02<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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N\u00f6rogenetik<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Genetik Temelli N\u00f6rolojik Hastal\u0131klar\u0131n De\u011ferlendirilmesi<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Genetik de\u011fi\u015fikliklerle ili\u015fkili n\u00f6rolojik hastal\u0131klar\u0131n de\u011ferlendirilmesi; klinik bulgular\u0131n, geli\u015fimsel \u00f6zelliklerin ve uygun genetik incelemelerin birlikte ele al\u0131nmas\u0131n\u0131 gerektirir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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N\u00f6rogenetik Nedir?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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N\u00f6rogenetik, genetik de\u011fi\u015fikliklerin neden oldu\u011fu veya olu\u015fumunda rol oynad\u0131\u011f\u0131 n\u00f6rolojik hastal\u0131klar\u0131n tan\u0131 ve de\u011ferlendirilmesine odaklanan bir aland\u0131r. \u00c7ocukluk \u00e7a\u011f\u0131nda baz\u0131 epilepsiler, n\u00f6rogeli\u015fimsel bozukluklar, hareket bozukluklar\u0131, kal\u0131tsal n\u00f6rolojik hastal\u0131klar ve nadir hastal\u0131klar genetik nedenlerle ili\u015fkili olabilir.<\/p>

Genetik de\u011ferlendirme s\u00fcrecinde \u00e7ocu\u011fun klinik bulgular\u0131, n\u00f6rolojik muayenesi, geli\u015fimsel \u00f6zellikleri ve aile \u00f6yk\u00fcs\u00fc birlikte ele al\u0131narak uygun genetik incelemeler planlanabilir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHer genetik bulgu hastal\u0131k anlam\u0131na gelmez.\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tGenetik testlerde saptanan bir de\u011fi\u015fikli\u011fin klinik anlam\u0131, \u00e7ocu\u011fun bulgular\u0131 ve aile \u00f6yk\u00fcs\u00fc ile birlikte de\u011ferlendirilmelidir. Bu nedenle genetik sonu\u00e7lar\u0131n yaln\u0131zca test sonucu \u00fczerinden de\u011fil, klinik bilgilerle birlikte yorumlanmas\u0131 \u00f6nemlidir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKlinik De\u011ferlendirme\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\t\u00c7ocu\u011fun n\u00f6rolojik bulgular\u0131, geli\u015fimsel \u00f6zellikleri ve hastal\u0131k \u00f6yk\u00fcs\u00fc birlikte de\u011ferlendirilir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAile \u00d6yk\u00fcs\u00fc\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tAilede benzer bulgular\u0131n ve kal\u0131tsal hastal\u0131klar\u0131n varl\u0131\u011f\u0131 de\u011ferlendirme s\u00fcrecinde dikkate al\u0131n\u0131r.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGenetik Testler\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tKlinik bulgulara g\u00f6re uygun genetik testler ve molek\u00fcler incelemeler planlanabilir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSonu\u00e7lar\u0131n Yorumlanmas\u0131\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tGenetik bulgular, \u00e7ocu\u011fun klinik \u00f6zellikleri ve aile \u00f6yk\u00fcs\u00fc ile birlikte de\u011ferlendirilir.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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Genetik Temelli N\u00f6rolojik Hastal\u0131klara Yakla\u015f\u0131m<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Genetik temelli n\u00f6rolojik hastal\u0131klar geni\u015f bir klinik yelpazeye sahiptir. Geli\u015fimsel gerilik, epilepsi, hareket bozukluklar\u0131, n\u00f6rom\u00fcsk\u00fcler bulgular veya farkl\u0131 n\u00f6rolojik belirtiler baz\u0131 genetik hastal\u0131klar\u0131n klinik \u00f6zellikleri aras\u0131nda yer alabilir.<\/p>

Tan\u0131sal yakla\u015f\u0131mda klinik de\u011ferlendirme ile genetik incelemelerin birlikte ele al\u0131nmas\u0131, hastal\u0131\u011f\u0131n nedeninin anla\u015f\u0131lmas\u0131 ve uygun takip s\u00fcrecinin olu\u015fturulmas\u0131na katk\u0131 sa\u011flayabilir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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N\u00f6rogenetik Alan\u0131ndaki Bilimsel \u00c7al\u0131\u015fmalar<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Genetik temelli n\u00f6rolojik hastal\u0131klar, Prof. Dr. P\u0131nar Gen\u00e7p\u0131nar’\u0131n akademik \u00e7al\u0131\u015fmalar\u0131nda \u00f6nemli bir yer tutmaktad\u0131r. \u00c7ocukluk \u00e7a\u011f\u0131 nadir hastal\u0131klar\u0131, genetik tan\u0131, n\u00f6rogeli\u015fimsel bozukluklar ve kal\u0131tsal n\u00f6rolojik hastal\u0131klar\u0131n klinik ve molek\u00fcler \u00f6zellikleri \u00fczerine farkl\u0131 ara\u015ft\u0131rmalarda yer almaktad\u0131r.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\tMitokondriyal Sitopatilere Genetik Yakla\u015f\u0131m\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\u00c7ocuk N\u00f6rolojisinde Genetik Yakla\u015f\u0131mlar \u2014 T\u00fcrkiye Klinikleri<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t<\/path><\/svg>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\tYay\u0131n\u0131 g\u00f6r<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\tGenetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Annals of Indian Academy of Neurology<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\tUnmasking Genetic Etiologies in Neurodevelopmental Disorders Characterized by Cerebral Palsy: Insights From Integrative Genomic Approaches\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Frontiers in Neurology<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Di\u011fer Uzmanl\u0131k Alanlar\u0131<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tEpilepsi\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPerinatal N\u00f6roloji\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t<\/path><\/svg>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\tDetayl\u0131 Bilgi<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGeli\u015fimsel N\u00f6roloji\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tEEG ve N\u00f6rofizyoloji\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tNadir Hastal\u0131klar\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t<\/path><\/svg>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\tDetayl\u0131 Bilgi<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n\t\t<\/div>","protected":false},"excerpt":{"rendered":"

02 N\u00f6rogenetik Genetik Temelli N\u00f6rolojik Hastal\u0131klar\u0131n De\u011ferlendirilmesi Genetik de\u011fi\u015fikliklerle ili\u015fkili n\u00f6rolojik hastal\u0131klar\u0131n de\u011ferlendirilmesi; klinik bulgular\u0131n, geli\u015fimsel \u00f6zelliklerin ve uygun genetik incelemelerin birlikte ele al\u0131nmas\u0131n\u0131 gerektirir. N\u00f6rogenetik Nedir? N\u00f6rogenetik, genetik de\u011fi\u015fikliklerin neden oldu\u011fu veya olu\u015fumunda rol oynad\u0131\u011f\u0131 n\u00f6rolojik hastal\u0131klar\u0131n tan\u0131 ve de\u011ferlendirilmesine odaklanan bir aland\u0131r. \u00c7ocukluk \u00e7a\u011f\u0131nda baz\u0131 epilepsiler, n\u00f6rogeli\u015fimsel bozukluklar, hareket bozukluklar\u0131, kal\u0131tsal n\u00f6rolojik hastal\u0131klar…<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_kad_post_transparent":"default","_kad_post_title":"hide","_kad_post_layout":"fullwidth","_kad_post_sidebar_id":"","_kad_post_content_style":"unboxed","_kad_post_vertical_padding":"hide","_kad_post_feature":"hide","_kad_post_feature_position":"","_kad_post_header":false,"_kad_post_footer":false,"_kad_post_classname":"","footnotes":""},"class_list":["post-542","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/542","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/comments?post=542"}],"version-history":[{"count":23,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/542\/revisions"}],"predecessor-version":[{"id":1181,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/542\/revisions\/1181"}],"wp:attachment":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/media?parent=542"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}