S4 Charges Move Close to Residues in the Pore Domain during Activation in a K Channel

por Elinder, Fredrik, Männikkö, Roope, Larsson, H. Peter
Publicado 2001

Molecular Movement of the Voltage Sensor in a K Channel

por Broomand, Amir, Männikkö, Roope, Larsson, H. Peter, Elinder, Fredrik
Publicado 2003

Hysteresis in the Voltage Dependence of HCN Channels: Conversion between Two Modes Affects Pacemaker Properties

por Männikkö, Roope, Pandey, Shilpi, Larsson, H. Peter, Elinder, Fredrik
Publicado 2005

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

por Palmio, Johanna, Sandell, Satu, Hanna, Michael G., Männikkö, Roope, Penttilä, Sini, Udd, Bjarne
Publicado 2017

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

por Carpenter, Jenna C., Männikkö, Roope, Heffner, Catherine, Heneine, Jana, Sampedro‐Castañeda, Marisol, Lignani, Gabriele, Schorge, Stephanie
Publicado 2021

Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the K(ATP) Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes

por Männikkö, Roope, Flanagan, Sarah E., Sim, Xiuli, Segal, David, Hussain, Khalid, Ellard, Sian, Hattersley, Andrew T., Ashcroft, Frances M.
Publicado 2011

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

por Türkdoğan, Dilşad, Matthews, Emma, Usluer, Sunay, Gündoğdu, Aslı, Uluç, Kayıhan, Mannikko, Roope, Hanna, Michael G., Sisodiya, Sanjay M., Çağlayan, Hande S.
Publicado 2019

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na(V)1.4

por Luo, Sushan, Sampedro Castañeda, Marisol, Matthews, Emma, Sud, Richa, Hanna, Michael G., Sun, Jian, Song, Jie, Lu, Jiahong, Qiao, Kai, Zhao, Chongbo, Männikkö, Roope
Publicado 2018

Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4

por Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.
Publicado 2019

Ageing contributes to phenotype transition in a mouse model of periodic paralysis

por Suetterlin, Karen J., Tan, S. Veronica, Mannikko, Roope, Phadke, Rahul, Orford, Michael, Eaton, Simon, Sayer, Avan A., Grounds, Miranda D., Matthews, Emma, Greensmith, Linda, Hanna, Michael G.
Publicado 2021

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes

por Babiker, Tarig, Vedovato, Natascia, Patel, Kashyap, Thomas, Nicholas, Finn, Roisin, Männikkö, Roope, Chakera, Ali J., Flanagan, Sarah E., Shepherd, Maggie H., Ellard, Sian, Ashcroft, Frances M., Hattersley, Andrew T.
Publicado 2016

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

por Thor, Michael G., Vivekanandam, Vinojini, Sampedro-Castañeda, Marisol, Tan, S. Veronica, Suetterlin, Karen, Sud, Richa, Durran, Siobhan, Schorge, Stephanie, Kullmann, Dimitri M., Hanna, Michael G., Matthews, Emma, Männikkö, Roope
Publicado 2019

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia

por Suetterlin, Karen, Matthews, Emma, Sud, Richa, McCall, Samuel, Fialho, Doreen, Burge, James, Jayaseelan, Dipa, Haworth, Andrea, Sweeney, Mary G, Kullmann, Dimitri M, Schorge, Stephanie, Hanna, Michael G, Männikkö, Roope
Publicado 2021

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

por Shimomura, Kenju, Flanagan, Sarah E, Zadek, Brittany, Lethby, Mark, Zubcevic, Lejla, Girard, Christophe A J, Petz, Oliver, Mannikko, Roope, Kapoor, Ritika R, Hussain, Khalid, Skae, Mars, Clayton, Peter, Hattersley, Andrew, Ellard, Sian, Ashcroft, Frances M
Publicado 2009

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

por Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O’Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma
Publicado 2018

Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Na(v)1.4 Channel

por Myshkin, Mikhail Yu., Männikkö, Roope, Krumkacheva, Olesya A., Kulbatskii, Dmitrii S., Chugunov, Anton O., Berkut, Antonina A., Paramonov, Alexander S., Shulepko, Mikhail A., Fedin, Matvey V., Hanna, Michael G., Kullmann, Dimitri M., Bagryanskaya, Elena G., Arseniev, Alexander S., Kirpichnikov, Mikhail P., Lyukmanova, Ekaterina N., Vassilevski, Alexander A., Shenkarev, Zakhar O.
Publicado 2019

Spider toxin inhibits gating pore currents underlying periodic paralysis

por Männikkö, Roope, Shenkarev, Zakhar O., Thor, Michael G., Berkut, Antonina A., Myshkin, Mikhail Yu, Paramonov, Alexander S., Kulbatskii, Dmitrii S., Kuzmin, Dmitry A., Sampedro Castañeda, Marisol, King, Louise, Wilson, Emma R., Lyukmanova, Ekaterina N., Kirpichnikov, Mikhail P., Schorge, Stephanie, Bosmans, Frank, Hanna, Michael G., Kullmann, Dimitri M., Vassilevski, Alexander A.
Publicado 2018

De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy

por Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope
Publicado 2022

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

por 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, Matthews, Emma
Publicado 2018

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

por Corrochano, Silvia, Männikkö, Roope, Joyce, Peter I., McGoldrick, Philip, Wettstein, Jessica, Lassi, Glenda, Raja Rayan, Dipa L., Blanco, Gonzalo, Quinn, Colin, Liavas, Andrianos, Lionikas, Arimantas, Amior, Neta, Dick, James, Healy, Estelle G., Stewart, Michelle, Carter, Sarah, Hutchinson, Marie, Bentley, Liz, Fratta, Pietro, Cortese, Andrea, Cox, Roger, Brown, Steve D. M., Tucci, Valter, Wackerhage, Henning, Amato, Anthony A., Greensmith, Linda, Koltzenburg, Martin, Hanna, Michael G., Acevedo-Arozena, Abraham
Publicado 2014