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9 results on '"Thor, Michael G"'

1. Spider toxin inhibits gating pore currents underlying periodic paralysis

Author

Männikkö, Roope, Shenkarev, Zakhar O., Thor, Michael G., Berkut, Antonina A., Myshkin, Mikhail Yu, Paramonov, Alexander S., Kulbatskii, Dmitrii S., Kuzmin, Dmitry A., Castañeda, Marisol Sampedro, King, Louise, Wilson, Emma R., Lyukmanova, Ekaterina N., Kirpichnikov, Mikhail P., Schorge, Stephanie, Bosmans, Frank, Hanna, Michael G., Kullmann, Dimitri M., and Vassilevski, Alexander A.

Published
2018

3. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Author

Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D’Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R., Feng, Lucy, Phadke, Rahul, Sewry, Caroline A., Morgan, Jennifer E., Laing, Nigel G., Vallance, Hilary, Ruben, Peter, Hanna, Michael G., Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, and Muntoni, Francesco

Published
2016
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4. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome:a case-control study

Author

Männikkö, Roope, Wong, Leonie, Tester, David J, Thor, Michael G, Sud, Richa, Kullmann, Dimitri M, Sweeney, Mary G, Leu, Costin, Sisodiya, Sanjay M, FitzPatrick, David R, Evans, Margaret J, Jeffrey, Iona J M, Tfelt-Hansen, Jacob, Cohen, Marta C, Fleming, Peter J, Jaye, Amie, Simpson, Michael A, Ackerman, Michael J, Hanna, Michael G, Behr, Elijah R, and Matthews, Emma

Subjects
Adult, Male, NONDYSTROPHIC MYOTONIA, Article, PERIODIC PARALYSIS, Gene Frequency, Risk Factors, Exome Sequencing, Humans, LARYNGEAL MUSCLE, NAV1.4 Voltage-Gated Sodium Channel, Muscle, Skeletal, TRIPLE-RISK MODEL, MUTATIONS, Genetic Variation, Infant, MYASTHENIC SYNDROME, CONGENITAL MYOPATHY, Case-Control Studies, FIBER TYPES, Mutation, FAST INACTIVATION, Channelopathies, Female, SCN4A, Sudden Infant Death
Abstract

Background: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome. SCN4A variants have also been found in infants with life-threatening apnoea and laryngospasm. We therefore hypothesised that rare, functionally disruptive SCN4A variants might be over-represented in infants who died from SIDS. Methods: We did a case-control study, including two consecutive cohorts that included 278 SIDS cases of European ancestry and 729 ethnically matched controls without a history of cardiovascular, respiratory, or neurological disease. We compared the frequency of rare variants in SCN4A between groups (minor allele frequency

Published
2018

5. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

Author

Männikkö, Roope, primary, Wong, Leonie, additional, Tester, David J, additional, Thor, Michael G, additional, Sud, Richa, additional, Kullmann, Dimitri M, additional, Sweeney, Mary G, additional, Leu, Costin, additional, Sisodiya, Sanjay M, additional, FitzPatrick, David R, additional, Evans, Margaret J, additional, Jeffrey, Iona J M, additional, Tfelt-Hansen, Jacob, additional, Cohen, Marta C, additional, Fleming, Peter J, additional, Jaye, Amie, additional, Simpson, Michael A, additional, Ackerman, Michael J, additional, Hanna, Michael G, additional, Behr, Elijah R, additional, and Matthews, Emma, additional

Published
2018
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8. Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

Author

Zaharieva, Irina T., primary, Thor, Michael G., additional, Oates, Emily C., additional, van Karnebeek, Clara, additional, Hendson, Glenda, additional, Blom, Eveline, additional, Witting, Nanna, additional, Rasmussen, Magnhild, additional, Gabbett, Michael T., additional, Ravenscroft, Gianina, additional, Sframeli, Maria, additional, Suetterlin, Karen, additional, Sarkozy, Anna, additional, D’Argenzio, Luigi, additional, Hartley, Louise, additional, Matthews, Emma, additional, Pitt, Matthew, additional, Vissing, John, additional, Ballegaard, Martin, additional, Krarup, Christian, additional, Slørdahl, Andreas, additional, Halvorsen, Hanne, additional, Ye, Xin Cynthia, additional, Zhang, Lin-Hua, additional, Løkken, Nicoline, additional, Werlauff, Ulla, additional, Abdelsayed, Mena, additional, Davis, Mark R., additional, Feng, Lucy, additional, Phadke, Rahul, additional, Sewry, Caroline A., additional, Morgan, Jennifer E., additional, Laing, Nigel G., additional, Vallance, Hilary, additional, Ruben, Peter, additional, Hanna, Michael G., additional, Lewis, Suzanne, additional, Kamsteeg, Erik-Jan, additional, Männikkö, Roope, additional, and Muntoni, Francesco, additional

Published
2015
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9. Contrasting roles of Ih and the persistent sodium current at subthreshold voltages during naturalistic stimuli.

Author

Thor, Michael G. and Morris, Gareth

Subjects
*HIPPOCAMPUS (Brain), *SODIUM channels, *HYPERPOLARIZATION (Cytology), *STIMULUS & response (Biology), *MEMBRANE potential
Abstract

The subthreshold activity of hippocampal CA1 pyramidal neurons is regulated by the persistent sodium current (INaP) and the h-current (Ih), carried by tetrodotoxinsensitive sodium channels and hyperpolarization-activated cyclic-nucleotide-gated channels, respectively. Recently, Yamada-Hanff and Bean (J Neurophysiol 114: 2376-2389, 2015) used pharmacological methods to discern the roles of Ih and INaP at subthreshold voltages during naturalistic stimuli. We discuss these findings in the context of dorsoventral heterogeneity in the hippocampus and suggest further applications of the method. [ABSTRACT FROM AUTHOR]

Published
2016
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