rare mutations present in the SCN9A gene , which codes for the voltage - gated sodium channel NaV1.7 α subunit(passive) is caused bychannelopathy
disturbed function of ion channel subunits or the proteins that regulate them(passive) is caused bychannelopathy Channelopathy
loss - of - function mutations in ORAI1 and STIM1 that abolish CRAC channel function and SOCE(passive) is caused byCRAC channelopathy
mutations localizing to genes which encode cardiac ion channels , or channel interacting proteins , resulting in delayed cardiac repolarization5(passive) caused bychannelopathy
missense mutation ( Thr1547Ile ) of the ABCC9 gene conferring predisposition to adrenergic AF originating from the vein of Marshall(passive) caused bychannelopathy
Thyrotoxicosis , heavy exercise , high carbohydrate meal and some drugscan triggerchannelopathy
α - synuclein(Lashuel et al . , 2002(passive) caused bychannelopathy
loss of SOCE which is usually dominated by immunodeficiency autoimmunity and severe dental Verlukast enamel defects and Stormorken syndrome due to constitutive SOCE which primarily manifests with moderate bleeding diathesis(passive) caused byCRAC channelopathy
https://t.co/O0fvMfZmCl Cheeky Little Media ’ssetKazoops
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human diseases(passive) caused byhuman diseases
congenital inability to experience pain ... author={Cox ... James J and Reimann , Frank and Nicholas , Adeline K and Thornton , Gemma and Roberts , Emma and Springell , Kelly and Karbani , Gulshan and Jafri , Hussain and Mannan , Jovaria and Raashid , Yasmin and L. Al - Gazali and H. Hamamy and E. M. Valente and S. Gorman and R. Williams and D. P. McHale and J. N. Wood and F. M. Gribble and C. G. Woods } , number={7121 } , pages={894 - -898causescongenital inability to experience pain ... author={Cox ... James J and Reimann , Frank and Nicholas , Adeline K and Thornton , Gemma and Roberts , Emma and Springell , Kelly and Karbani , Gulshan and Jafri , Hussain and Mannan , Jovaria and Raashid , Yasmin and L. Al - Gazali and H. Hamamy and E. M. Valente and S. Gorman and R. Williams and D. P. McHale and J. N. Wood and F. M. Gribble and C. G. Woods } , number={7121 } , pages={894 - -898
to loss of function of ion channel Nav1.7leadingto loss of function of ion channel Nav1.7
to loss of function of ion channel Navl .7leadingto loss of function of ion channel Navl .7
human oocyte death by Sang , Qing and Zhang , Zhihua and Shi , Juanzi and Sun , Xiaoxi and Li , Bin and Yan , Zheng and Xue , Songguo and Ai , Ai and Lyu , Qifeng and Li , Wei and Zhang , Jilin and Wu , Ling and Mao , Xiaoyan and Chen , Biaobang and Mu , Jian and Li , Qiaoli and Du , Jing and Sun , Qiang and Jin , Li and He , Lin and Zhu , Shujia and Kuang , Yanping and Wang , Lei Science Translational Medicine , ISSN 1946 - 6234 , 2019 , Volume 11 , Issue 485causeshuman oocyte death by Sang , Qing and Zhang , Zhihua and Shi , Juanzi and Sun , Xiaoxi and Li , Bin and Yan , Zheng and Xue , Songguo and Ai , Ai and Lyu , Qifeng and Li , Wei and Zhang , Jilin and Wu , Ling and Mao , Xiaoyan and Chen , Biaobang and Mu , Jian and Li , Qiaoli and Du , Jing and Sun , Qiang and Jin , Li and He , Lin and Zhu , Shujia and Kuang , Yanping and Wang , Lei Science Translational Medicine , ISSN 1946 - 6234 , 2019 , Volume 11 , Issue 485
congenital inability to experience painJamescausescongenital inability to experience painJames
to a dysfunction of signals along neurons , muscles and cells making them easily excitable , but not able to discharge correctlyleadto a dysfunction of signals along neurons , muscles and cells making them easily excitable , but not able to discharge correctly
the unstable cardiac electrical activity and results in arrhythmiausually causesthe unstable cardiac electrical activity and results in arrhythmia
flaccid muscle paralysis , weakness and fatiguecausingflaccid muscle paralysis , weakness and fatigue