Search Results - "CANNON, Stephen"

Epilepsy channelopathies go neddy: stabilizing NaV1.1 channels by neddylation by Cannon, Stephen C

“…Loss-of-function mutations of SCN1A encoding the pore-forming α subunit of the NaV1.1 neuronal sodium channel cause a severe developmental epileptic…”
Get full text

Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis by Cannon, Stephen C.

Get full text

Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP by Wu, Fenfen, Quinonez, Marbella, Cannon, Stephen C

“…Mutations in the voltage sensor domain (VSD) of CaV1.1, the α1S subunit of the L-type calcium channel in skeletal muscle, are an established cause of…”
Get full text

A role for external Ca2+ in maintaining muscle contractility in periodic paralysis by Cannon, Stephen C

“…Calcium gluconate has been empirically administered to hasten recovery of force during an episode of periodic paralysis. By using a genetically engineered…”
Get full text

A peptide encoded by a transcript annotated as long noncoding RNA enhances SERCA activity in muscle by Nelson, Benjamin R., Makarewich, Catherine A., Anderson, Douglas M., Winders, Benjamin R., Troupes, Constantine D., Wu, Fenfen, Reese, Austin L., McAnally, John R., Chen, Xiongwen, Kavalali, Ege T., Cannon, Stephen C., Houser, Steven R., Bassel-Duby, Rhonda, Olson, Eric N.

“…Muscle contraction depends on release of Ca²⁺ from the sarcoplasmic reticulum (SR) and reuptake by the Ca²⁺ adenosine triphosphatase SERCA. We discovered a…”
Get full text

Voltage-dependent Ca 2+ release is impaired in hypokalemic periodic paralysis caused by Ca V 1.1-R528H but not by Na V 1.4-R669H by DiFranco, Marino, Cannon, Stephen C

“…Hypokalemic periodic paralysis (HypoPP) is a channelopathy of skeletal muscle caused by missense mutations in the voltage sensor domains (usually at an…”
Get more information

Voltage‐sensor mutations in channelopathies of skeletal muscle by Cannon, Stephen C.

“…Mutations of voltage‐gated ion channels cause several channelopathies of skeletal muscle, which present clinically with myotonia, periodic paralysis, or a…”
Get full text

Skeletal muscle channelopathy: a new risk for sudden infant death syndrome by Cannon, Stephen C

“…Sudden infant death syndrome (SIDS) remains a leading cause of infant mortality, despite a steadily decreasing incidence since the 1990s.1 The reasons for this…”
Get full text

Retigabine suppresses loss of force in mouse models of hypokalaemic periodic paralysis by Quiñonez, Marbella, DiFranco, Marino, Wu, Fenfen, Cannon, Stephen C

“…Abstract Recurrent episodes of weakness in periodic paralysis are caused by intermittent loss of muscle fibre excitability, as a consequence of sustained…”
Get full text

An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis by Cannon, Stephen C.

“…Cannon reviews new evidence supporting a key role for anomalous inward currents in the etiology of hypokalemic periodic paralysis…”
Get full text

Review of the Diagnosis and Treatment of Periodic Paralysis by Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas E., Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert C.

“…ABSTRACT Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs…”
Get full text

Mind the magnesium, in dantrolene suppression of malignant hyperthermia by Cannon, Stephen C.

Get full text

When all is lost…a severe myopathy with hypotonia from sodium channel mutations by Cannon, Stephen C

“…This scientific commentary refers to “Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy”, by Zaharieva et…”
Get full text

Pathomechanisms in channelopathies of skeletal muscle and brain by CANNON, Stephen C

“…Ion channelopathies are a diverse array of human disorders caused by mutations in ion channel genes. This review focuses on the pathogenic mechanisms of…”
Get full text

Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels by Wu, Fenfen, Quinonez, Marbella, DiFranco, Marino, Cannon, Stephen C.

“…Mutations of CaV1.1, the pore-forming subunit of the L-type Ca2+ channel in skeletal muscle, are an established cause of hypokalemic periodic paralysis…”
Get full text

Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening by Lin, Meng-chin A., Cannon, Stephen C., Papazian, Diane M.

“…A de novo mutation in the KCND2 gene, which encodes the Kv4.2 K⁺ channel, was identified in twin boys with intractable, infantonset epilepsy and autism. Kv4.2…”
Get full text

The distinct role of the four voltage sensors of the skeletal CaV1.1 channel in voltage-dependent activation by Savalli, Nicoletta, Angelini, Marina, Steccanella, Federica, Wier, Julian, Wu, Fenfen, Quinonez, Marbella, DiFranco, Marino, Neely, Alan, Cannon, Stephen C, Olcese, Riccardo

“…Initiation of skeletal muscle contraction is triggered by rapid activation of RYR1 channels in response to sarcolemmal depolarization. RYR1 is intracellular…”
Get full text

Guidelines on clinical presentation and management of nondystrophic myotonias by Stunnenberg, Bas C., LoRusso, Samantha, Arnold, W. David, Barohn, Richard J., Cannon, Stephen C., Fontaine, Bertrand, Griggs, Robert C., Hanna, Michael G., Matthews, Emma, Meola, Giovanni, Sansone, Valeria A., Trivedi, Jaya R., van Engelen, Baziel G.M., Vicart, Savine, Statland, Jeffrey M.

“…The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐function mutations in the SCN4A gene or loss‐of‐function mutations in…”
Get full text

Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca²⁺ release and contractility by Nelson, Benjamin R., Wu, Fenfen, Liu, Yun, Anderson, Douglas M., McAnally, John, Lin, Weichun, Cannon, Stephen C., Bassel-Duby, Rhonda, Olson, Eric N.

“…Excitation–contraction (EC) coupling comprises events in muscle that convert electrical signals to Ca ²⁺ transients, which then trigger contraction of the…”
Get full text

Periodic paralysis by Cannon, Stephen C

“…Periodic paralysis is a rare, dominantly inherited disorder of skeletal muscle in which episodic attacks of weakness are caused by a transient impairment of…”
Get more information