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[[Channelopathy]] diseases are caused by disturbed function of ion channel subunits or the proteins that regulate them. They can be genetic (inherited) or acquired, for example through an [[Autoimmune disease|autoimmune]] attack on the channel. [[Genetic testing]] can be used to identify many of the inherited channelopathy diseases, but since acquired channelopathies only involve gene changes to some types of cell rather than all cells gene testing is not normally used for diagnosis.<ref name="genemutation">{{Cite web | url = https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation | title = What is a gene mutation and how do mutations occur? | last = Genetics Home Reference {{!}} NIH| first = | authorlink = | date = | website = Genetics Home Reference|language=en| archive-url = | archive-date = |url-status = | access-date=2018-11-30}}</ref> ==Neurological channelopathies== ===Central nervous system channelopathies=== See also: [[central nervous system]] {| class="wikitable sortable" "alternate" ! Channel || Gene || Disease || Notes |- | [[Sodium channel]] || [[SCN1A]]|| [[Epilepsy]], [[migraine]] || |- | [[Sodium channel]] || [[SCN1B]] || Epilepsy || |- | [[Sodium channel]]|| [[SCN2A]] || Epilepsy || |- | [[Potassium channel]]|| [[KCNQ2]] || Epilepsy || |- | [[Potassium channel]] || [[KCNQ3]] || Epilepsy || |- | [[Potassium channel]]|| [[KCNMA1]] || [[Epilepsy]] with dyskinesia || |- | [[Potassium channel]]|| [[KCNA1]] || [[ataxia#episodic|Episodic ataxia]] || |- | [[Potassium channel]]|| [[KCNC3]] || [[Ataxia]] || |- | [[Calcium channel]]|| [[CACNA1H]] || Epilepsy || |- | [[Calcium channel]] || [[CACNA1A]] || Episodic or progressive [[ataxia]], [[migraine]], [[epilepsy]] || |- | [[GABAA receptor]]|| [[GABRA1]] || Epilepsy || |- | [[GABAA receptor]] || [[GABRB3]] || Epilepsy || |- | [[GABAA receptor]] || [[GABRG2]] || Epilepsy || |- | [[Nicotinic ACh receptor]] || [[CHRNA2]] || Epilepsy || |- | [[Nicotinic ACh receptor]] || [[CHNRA4]] || Epilepsy || |- | [[Nicotinic ACh receptor]] || [[CHRNB2]] || Epilepsy || |- | [[Glycine receptor]]|| [[GLRA1]] || Hyperekplexia || |- | [[Glycine receptor]]|| [[GLRB]] || Hyperekplexia<ref name="Kullmann2010" /> || |} ===Peripheral nerve channelopathies=== {| class="wikitable sortable" "alternate" ! Channel || Gene || Disease || Notes |- | [[Sodium channel]] || [[SCN9A]] || [[Hyperalgesia|Excessive pain]], [[anaesthesia|insensitivity to pain]] ||Associated with one particular severe form of [[Fibromyalgia]]<ref name="Vargas2012">{{cite journal | last = Vargas-Alarcon | first = G | last2 =Alvarez-Leon | first2 = E | last3 = Fragoso | first3 = JM | last4 = Vargas | first4 = A | last5 = Martinez | first5 = A | last6 = Vallejo | first6 = M | last7 = Martinez-Lavin | first7 = M | title=A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia | journal=J Rheumatol Suppl | year=2012 | pages=13β23 | volume=19 |pmid=22348792 | doi=10.1186/1471-2474-13-23 | pmc=3310736}}</ref><ref name="Kullmann2010" /> |} ===Muscle Channelopathies === {| class="wikitable sortable" "alternate" ! Channel || Gene || Disease || Notes |- | [[Sodium channel]] || [[SCN4A]] || [[Periodic paralysis]], myotonia || |- | [[Potassium channel]] || [[KCNJ2]] || [[Periodic paralysis]] || |- | [[Potassium channel]] || [[KCNJ18]] || [[Periodic paralysis]] || |- | [[Calcium channel]] || [[CACNA1S]] || [[Periodic paralysis]] || |- | [[Chloride channel]] || [[CLCN1]] || Myotonia || |- | [[Nicotinic ACh receptor]]|| [[CHRNA1]] || Congenital myasthenic syndromes || |- | [[Nicotinic ACh receptor]] || [[CHRNB1]] || Congenital myasthenic syndromes || |- | [[Nicotinic ACh receptor]] || [[CHRNG]] || Congenital myasthenic syndromes || |- | [[Nicotinic ACh receptor]]|| [[CHRND]] || Congenital myasthenic syndromes || |- | [[Nicotinic ACh receptor]] || [[CHRNE]] || Congenital myasthenic syndromes <ref name="Kullmann2010">{{Cite journal | last = Kullmann | first = Dimitri M. | authorlink = | last2 = Waxman | first2 = Stephen G. | author-link2 = | author-link5 = | date = 2010-05-28 | title = Neurological channelopathies: new insights into disease mechanisms and ion channel function | url =https://physoc.onlinelibrary.wiley.com/doi/full/10.1113/jphysiol.2010.190652 | journal = The Journal of Physiology|language=en | volume = 588 | issue = 11 | pages = 1823β1827|doi=10.1113/jphysiol.2010.190652|issn=0022-3751|pmc=2901970|pmid=20375141|quote=|via=}}</ref> || |} === Pain channelopathies === Gene SCN9A has been found to be associated with one particular severe form of [[Fibromyalgia|fibromyalgia,]]<ref name="Vargas2012" /> and with other pain-related conditions including a congenital inability to feel pain and extreme pain syndromes.<ref name="Kurklinsky2016">{{Cite journal | last = Cannon | first = Ashley | last2 = Kurklinsky | first2 = Svetlana | last3 = Guthrie | first3 = Kimberly J. | last4 = Riegert-Johnson | first4 = Douglas L. | date = 2016 | title=Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder |url =https://dx.doi.org/10.1155/2016/9212369 | journal = Case Reports in Neurological Medicine|language=en | volume = | pages = 1β7|doi=10.1155/2016/9212369|issn=2090-6668|pmc=4972908|pmid=27525141}}</ref> ==ME / CFS == === Symptom recognition === Channelopathy research is referenced in the [[International Consensus Criteria|International Consensus Criteria Primer]]. == Notable studies == * 2000, Comparative analysis of lymphocytes in lymph nodes and peripheral blood of patients with chronic fatigue syndrome<ref>{{Cite journal | authorlink = Mary Ann Fletcher | last = Fletcher | first = Mary Ann | last2 = Maher | first2 = Kevin | author-link2 = Kevin Maher | author-link3 = Roberto Patarca-Montero | last3 = Patarca-Montero | first3 = Roberto | author-link4 = Nancy Klimas | last4 = Klimas | first4 = Nancy | date = Jan 2000 | title = Comparative Analysis of Lymphocytes in Lymph Nodes and Peripheral Blood of Patients with Chronic Fatigue Syndrome | url =https://www.tandfonline.com/doi/abs/10.1300/J092v07n03_06 | journal = Journal of Chronic Fatigue Syndrome|language=en | volume = 7 | issue = 3 | pages = 65β75|doi=10.1300/j092v07n03_06|issn=1057-3321|via=}}</ref> * 2004, Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions<ref>{{Cite journal | last = Klimas | first = Nancy G. | authorlink = Nancy Klimas | author-link2 = Anne Koneru | last2 = Koneru | first2 = Anne O'Brien | date = Dec 2007 | title = Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions |url =https://www.ncbi.nlm.nih.gov/pubmed/18177602 | journal = Current Rheumatology Reports | volume = 9 | issue = 6 | pages = 482β487|issn=1523-3774|pmid=18177602|via=}}</ref> * 2007, Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response<ref>{{Cite journal | authorlink = Jo Nijs | last = Nijs | first = Jo | last2 = De Meirleir | first2 = Kenny | author-link2 =Kenny De Meirleir | author-link3 =Mira Meeus | author-link4 = Neil McGregor | last3 = Meeus | first3 = Mira | last4 = McGregor | first4 = Neil R. | author-link5 = Patrick Englebienne | last5 = Englebienne | first5 = Patrick | date = 2004 | title = Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response | url =https://www.ncbi.nlm.nih.gov/pubmed/15082102 | journal = Medical Hypotheses | volume = 62 | issue = 5 | pages = 759β765|doi=10.1016/j.mehy.2003.11.030|issn=0306-9877|pmid=15082102}}</ref> * 2010, Neurological channelopathies: new insights into disease mechanisms and ion channel function<ref name="Kullmann2010" /> == See also == * [[Periodic paralysis]] * [[Migraine]] * [[Seizure]] * [[Gene]] * [[Ion transportation]] == Learn more == * [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935107/ Channelopathies (review article)]<ref>{{Cite journal | last = Kim | first = June-Bum | date = January 2014 | title = Channelopathies |url =https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935107/ | journal = Korean Journal of Pediatrics | volume = 57 | issue = 1 | pages = 1β18|doi=10.3345/kjp.2014.57.1.1|issn=1738-1061|pmc=3935107|pmid=24578711|via=}}</ref> * [http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1350-7540&volume=16&issue=2&spage=171 Channelopathies as a genetic cause of epilepsy]<ref name="pmid12644745">{{cite journal | last = Mulley | first = SF | last2 = Scheffer | first2 = IE| last3 = Petrou | last4 = Berkovic | title = Channelopathies as a genetic cause of epilepsy | journal = Current Opinion in Neurology | volume = 16 | issue = 2 | pages = 171β6 | date = Apr 2003 |pmid=12644745 |doi=10.1097/00019052-200304000-00009 | url = http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1350-7540&volume=16&issue=2&spage=171 |issn= |access-date=2009-04-30|quote=|via=}}</ref> * [https://adc.bmj.com/content/84/3/277 Ion Channels and Neurology]<ref>{{Cite journal | last = Zuberi | first = S.M. | last2 = Hanna | first2 = M.G. | date = 2001-03-01 | title = Ion channels and neurology | url = https://adc.bmj.com/content/84/3/277 | journal = Archives of Disease in Childhood|language=en | volume = 84 | issue = 3 | pages = 277β280|doi=10.1136/adc.84.3.277|issn=0003-9888|pmid=11207185}}</ref> * [https://dx.doi.org/10.1155%2F2016%2F9212369 Advanced Genetic Testing comes to the Pain Clinic to Make a Diagnosis of Paraxysmal Extreme Pain Disorder] * [http://www.neurology.org/cgi/pmidlookup?view=long&pmid=19153369 Seizures and arrhythmias: Differing phenotypes of a common channelopathy?]<ref name="pmid19153369">{{cite journal | author-link2 = | last = Hunter | first = JV | last2 = Moss | first2 = AJ | title = Seizures and arrhythmias: Differing phenotypes of a common channelopathy? | journal = Neurology (journal) | volume = 72 | issue = 3 | pages = 208β9 | date = Jan 2009 |pmid=19153369 |doi=10.1212/01.wnl.0000339490.98283.c5 | url = http://www.neurology.org/cgi/pmidlookup?view=long&pmid=19153369 |issn= |access-date=2009-04-30|quote=| via=}}</ref> ==References== {{Reflist}} [[Category:Disease]] [[Category:Biochemistry and cell biology]] [[Category:Channelopathy]]
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