Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrup...
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| Veröffentlicht in: | Kidney international 2000-03, Vol.57 (3), p.772-779 |
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| description | Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrupted inactivation or enhanced activation. Both defects result in too much inward Na current which may either initiate pathologic bursts of action potentials (myotonia) or cause flaccid paralysis by depolarizing fibers to a refractory inexcitable state. Myotonic stiffness and periodic paralysis occur as paroxysmal attacks often triggered by environmental factors such as serum K+, cold, or exercise. Many gaps remain in our understanding of the interactions between genetic predisposition and these environmental influences. Targeted gene manipulation in animals may provide the tools to fill in these gaps. |
| doi_str_mv | 10.1046/j.1523-1755.2000.00914.x |
| format | Article |
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Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrupted inactivation or enhanced activation. Both defects result in too much inward Na current which may either initiate pathologic bursts of action potentials (myotonia) or cause flaccid paralysis by depolarizing fibers to a refractory inexcitable state. Myotonic stiffness and periodic paralysis occur as paroxysmal attacks often triggered by environmental factors such as serum K+, cold, or exercise. Many gaps remain in our understanding of the interactions between genetic predisposition and these environmental influences. Targeted gene manipulation in animals may provide the tools to fill in these gaps.</description><identifier>ISSN: 0085-2538</identifier><identifier>EISSN: 1523-1755</identifier><identifier>DOI: 10.1046/j.1523-1755.2000.00914.x</identifier><identifier>PMID: 10720928</identifier><identifier>CODEN: KDYIA5</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Animals ; Biological and medical sciences ; Diseases of striated muscles. Neuromuscular diseases ; electrophysiology ; genetic disorder ; hereditary disease ; human ; Humans ; Ion Channel Gating ; Medical sciences ; Muscle, Skeletal - metabolism ; Mutation - physiology ; Mutation, Missense - physiology ; Myotonia - genetics ; Myotonia - metabolism ; Myotonia - physiopathology ; Neurology ; Paralyses, Familial Periodic - genetics ; Paralyses, Familial Periodic - metabolism ; Paralyses, Familial Periodic - physiopathology ; skeletal muscle ; Sodium Channels - genetics ; Sodium Channels - metabolism</subject><ispartof>Kidney international, 2000-03, Vol.57 (3), p.772-779</ispartof><rights>2000 International Society of Nephrology</rights><rights>2000 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Mar 2000</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-9b88db6b5ca7da7bdef6927cf691498dba038d6d77bcf3944ccda95c86c3350f3</citedby><cites>FETCH-LOGICAL-c498t-9b88db6b5ca7da7bdef6927cf691498dba038d6d77bcf3944ccda95c86c3350f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/210108351?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>309,310,314,780,784,789,790,23930,23931,25140,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1283237$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10720928$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cannon, Stephen C.</creatorcontrib><title>Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses</title><title>Kidney international</title><addtitle>Kidney Int</addtitle><description>Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrupted inactivation or enhanced activation. Both defects result in too much inward Na current which may either initiate pathologic bursts of action potentials (myotonia) or cause flaccid paralysis by depolarizing fibers to a refractory inexcitable state. Myotonic stiffness and periodic paralysis occur as paroxysmal attacks often triggered by environmental factors such as serum K+, cold, or exercise. Many gaps remain in our understanding of the interactions between genetic predisposition and these environmental influences. Targeted gene manipulation in animals may provide the tools to fill in these gaps.</description><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>electrophysiology</subject><subject>genetic disorder</subject><subject>hereditary disease</subject><subject>human</subject><subject>Humans</subject><subject>Ion Channel Gating</subject><subject>Medical sciences</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Mutation - physiology</subject><subject>Mutation, Missense - physiology</subject><subject>Myotonia - genetics</subject><subject>Myotonia - metabolism</subject><subject>Myotonia - physiopathology</subject><subject>Neurology</subject><subject>Paralyses, Familial Periodic - genetics</subject><subject>Paralyses, Familial Periodic - metabolism</subject><subject>Paralyses, Familial Periodic - physiopathology</subject><subject>skeletal muscle</subject><subject>Sodium Channels - genetics</subject><subject>Sodium Channels - metabolism</subject><issn>0085-2538</issn><issn>1523-1755</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkU1r3DAQhkVpaTZpf0KLKKU3u_qwLOnYhH4EAjmkPRYhSzKrxZZcyQ7Zfx-5XtLSSy8awfvMMDwDAMSoxqhpPx5qzAitMGesJgihGiGJm_rhGdg9Bc_BDiHBKsKoOAPnOR8KKCRFL8EZRpwgScQO_LybnJnTMsLYwxytLz-z1yG4AVqf5yV1OhiXoQ9w3jsYYrDHPKc47b2B4zHOMXidoQ4WTi75MsHASSc9HLPLr8CLXg_ZvT7VC_Djy-fvV9-qm9uv11efbirTSDFXshPCdm3HjOZW8866vpWEm_LiAthOIypsaznvTE9l0xhjtWRGtIZShnp6AT5sc6cUfy0uz2r02bhh0MHFJSuOJOeciAK--wc8xCWFspsiGGEkKMMFEhtkUsw5uV5NyY86HRVGavWvDmrVrFbNavWvfvtXD6X17Wn-0o3O_tW4CS_A-xOgs9FDn4pdn_9wBSGUF-zNhgVdTuCe8qaRmMo1v9xyV6zee5dUNt6VQ1mfyj2Vjf7_yz4CcwavLw</recordid><startdate>20000301</startdate><enddate>20000301</enddate><creator>Cannon, Stephen C.</creator><general>Elsevier Inc</general><general>Nature Publishing</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20000301</creationdate><title>Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses</title><author>Cannon, Stephen C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-9b88db6b5ca7da7bdef6927cf691498dba038d6d77bcf3944ccda95c86c3350f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>electrophysiology</topic><topic>genetic disorder</topic><topic>hereditary disease</topic><topic>human</topic><topic>Humans</topic><topic>Ion Channel Gating</topic><topic>Medical sciences</topic><topic>Muscle, Skeletal - metabolism</topic><topic>Mutation - physiology</topic><topic>Mutation, Missense - physiology</topic><topic>Myotonia - genetics</topic><topic>Myotonia - metabolism</topic><topic>Myotonia - physiopathology</topic><topic>Neurology</topic><topic>Paralyses, Familial Periodic - genetics</topic><topic>Paralyses, Familial Periodic - metabolism</topic><topic>Paralyses, Familial Periodic - physiopathology</topic><topic>skeletal muscle</topic><topic>Sodium Channels - genetics</topic><topic>Sodium Channels - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cannon, Stephen C.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Kidney international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cannon, Stephen C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses</atitle><jtitle>Kidney international</jtitle><addtitle>Kidney Int</addtitle><date>2000-03-01</date><risdate>2000</risdate><volume>57</volume><issue>3</issue><spage>772</spage><epage>779</epage><pages>772-779</pages><issn>0085-2538</issn><eissn>1523-1755</eissn><coden>KDYIA5</coden><abstract>Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrupted inactivation or enhanced activation. Both defects result in too much inward Na current which may either initiate pathologic bursts of action potentials (myotonia) or cause flaccid paralysis by depolarizing fibers to a refractory inexcitable state. Myotonic stiffness and periodic paralysis occur as paroxysmal attacks often triggered by environmental factors such as serum K+, cold, or exercise. Many gaps remain in our understanding of the interactions between genetic predisposition and these environmental influences. Targeted gene manipulation in animals may provide the tools to fill in these gaps.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>10720928</pmid><doi>10.1046/j.1523-1755.2000.00914.x</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | Animals Biological and medical sciences Diseases of striated muscles. Neuromuscular diseases electrophysiology genetic disorder hereditary disease human Humans Ion Channel Gating Medical sciences Muscle, Skeletal - metabolism Mutation - physiology Mutation, Missense - physiology Myotonia - genetics Myotonia - metabolism Myotonia - physiopathology Neurology Paralyses, Familial Periodic - genetics Paralyses, Familial Periodic - metabolism Paralyses, Familial Periodic - physiopathology skeletal muscle Sodium Channels - genetics Sodium Channels - metabolism |
| title | Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses |
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