اكتشاف اضطراب دماغي جيني نادر وتحديد أساسه الجيني

دنيا عبدالله - صحافة

اكتشف العلماء اضطراباً دماغياً جينياً نادراً يُسبب أذيةً عصبية شديدة عند الأطفال بعد حادثة من ارتفاع الحرارة المُعتدل أو التوعك الخفيف ثمّ يموت الطفل المُصاب بعد فترة قصيرة. وُجِدَ ست حالات فقط حول العالم من هذا الاضطراب وبفضل تسلسل كامل الجينوم whole-genome sequencing وكامل الإكسوم Whole-exome sequencing حدد العلماء تغايراً متنحٍ على جين NAXD في […]

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document.getElementById('Header1'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_LinkListView', new _WidgetInfo('LinkList3', 'topsocialL', document.getElementById('LinkList3'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_LinkListView', new _WidgetInfo('LinkList001', 'menu', document.getElementById('LinkList001'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_HTMLView', new _WidgetInfo('HTML100', 'Topa3lan-sc', document.getElementById('HTML100'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_HTMLView', new _WidgetInfo('HTML101', 'Topa3lan-sc2', document.getElementById('HTML101'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_BlogSearchView', new _WidgetInfo('BlogSearch2', 'searchform', document.getElementById('BlogSearch2'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_LabelView', new _WidgetInfo('Label002', 'searchform', document.getElementById('Label002'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_BlogView', new _WidgetInfo('Blog1', 'Tempnec', document.getElementById('Blog1'), {'cmtInteractionsEnabled': false, 'lightboxEnabled': true, 'lightboxModuleUrl': 'https://www.blogger.com/static/v1/jsbin/1110681623-lbx__ar.js', 'lightboxCssUrl': 'https://www.blogger.com/static/v1/v-css/828616780-lightbox_bundle_rtl.css'}, 'displayModeFull')); _WidgetManager._RegisterWidget('_HTMLView', new _WidgetInfo('HTML11', 'sidepar', document.getElementById('HTML11'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_LinkListView', new _WidgetInfo('LinkList005', 'PostA3lan', document.getElementById('LinkList005'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_HTMLView', new _WidgetInfo('HTML1', 'AddOns', document.getElementById('HTML1'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_HTMLView', new _WidgetInfo('HTML2', 'AddOns', document.getElementById('HTML2'), {}, 'displayModeFull')); _WidgetManager._RegisterWidget('_ContactFormView', new _WidgetInfo('ContactForm200', 'AddOns', document.getElementById('ContactForm200'), {'contactFormMessageSendingMsg': '\u062c\u0627\u0631\u064d \u0627\u0644\u0625\u0631\u0633\u0627\u0644...', 'contactFormMessageSentMsg': '\u062a\u0645 \u0625\u0631\u0633\u0627\u0644 \u0631\u0633\u0627\u0644\u062a\u0643.', 'contactFormMessageNotSentMsg': '\u062a\u0639\u0630\u0631 \u0625\u0631\u0633\u0627\u0644 \u0627\u0644\u0631\u0633\u0627\u0644\u0629\u060c \u064a\u0631\u062c\u0649 \u0627\u0644\u0645\u062d\u0627\u0648\u0644\u0629 \u0645\u0631\u0629 \u0623\u062e\u0631\u0649 \u0641\u064a \u0648\u0642\u062a \u0644\u0627\u062d\u0642.', 'contactFormInvalidEmailMsg': '\u064a\u0644\u0632\u0645 \u0625\u062f\u062e\u0627\u0644 \u0639\u0646\u0648\u0627\u0646 \u0628\u0631\u064a\u062f \u0625\u0644\u0643\u062a\u0631\u0648\u0646\u064a \u0635\u0627\u0644\u062d.', 'contactFormEmptyMessageMsg': '\u0644\u0627 \u064a\u0645\u0643\u0646 \u0623\u0646 \u064a\u0643\u0648\u0646 \u062d\u0642\u0644 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