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Channelopathy
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==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>
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