Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Michael B. Tennison"'
Publikováno v:
The Neurodiagnostic Journal. 57:224-233
Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic syndrome that strikes previously healthy children aged 3-15 years and has an unknown pathogenesis and few treatments. These children experience a nonspecific febrile illn
Autor:
Jonathan Picker, Amy Decker, Gepke Visser, Adeel Yousaf, Raymond Y. Wang, Eric D. Marsh, David A. Sweetser, Andrew Mower, Sharyn A. Lincoln, Elizabeth Butler, Gabriele Richard, Lindsay Schmidt, Koen L.I. van Gassen, Lauren C. Briere, Anita Shanmugham, Michael B. Tennison, Jasper J. van der Smagt, Inge Cuppen, Fanggeng Zou, Karen Leydiker, Dianalee McKnight, Kirsty McWalter, Chellamani Harini, Livija Medne
Publikováno v:
Journal of Neurogenetics, 31(1-2), 30. Informa Healthcare
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phe
Autor:
John Hardy, Heather C Mefford, Eleanna Kara, Corina Hennig, Arianna Tucci, Silvia Palmeri, Thomas Bast, Katharina Wimmer, Katherine A. Fawcett, Coro Paisán-Ruiz, Evan E. Eichler, Anna Schossig, Sebastiano Musumeci, Henry Houlden, Johannes Zschocke, Roel Hordijk, Andrew B. Singleton, Matthew Moore, Dian Donnai, Simon Shorvon, Alessandro Malandrini, Vincent Plagnol, Michael B. Tennison, Nicole I. Wolf, Salmo Raskin, Andreas Tzschach, Dena G. Hernandez, Roger K. Hall, Raoul C.M. Hennekam, Ian P Hayes, Chien Ning Lo
Publikováno v:
Human mutation, 34(2), 296-300. Wiley-Liss Inc.
Tucci, A, Kara, E, Schossig, A, Wolf, N I, Plagnol, V, Fawcett, K, Paisan-Ruiz, C, Moore, M, Hernandez, D, Musumeci, S, Tennison, M, Hennekam, R, Palmeri, S, Malandrini, A, Raskin, S, Donnai, D, Hennig, C, Tzschach, A, Hordijk, R, Bast, T, Wimmer, K, Lo, C N, Shorvon, S, Mefford, H, Eichler, E E, Hall, R, Hayes, I, Hardy, J, Singleton, A, Zschocke, J & Houlden, H 2013, ' KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity ', Human Mutation, vol. 34, no. 2, pp. 296-300 . https://doi.org/10.1002/humu.22241
Human Mutation, 34(2), 296-300. Wiley
Human Mutation, 34(2), 296-300. Wiley-Liss Inc.
Tucci, A, Kara, E, Schossig, A, Wolf, N I, Plagnol, V, Fawcett, K, Paisan-Ruiz, C, Moore, M, Hernandez, D, Musumeci, S, Tennison, M, Hennekam, R, Palmeri, S, Malandrini, A, Raskin, S, Donnai, D, Hennig, C, Tzschach, A, Hordijk, R, Bast, T, Wimmer, K, Lo, C N, Shorvon, S, Mefford, H, Eichler, E E, Hall, R, Hayes, I, Hardy, J, Singleton, A, Zschocke, J & Houlden, H 2013, ' KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity ', Human Mutation, vol. 34, no. 2, pp. 296-300 . https://doi.org/10.1002/humu.22241
Human Mutation, 34(2), 296-300. Wiley
Human Mutation, 34(2), 296-300. Wiley-Liss Inc.
Kohlschutter-Tonz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the fi
Autor:
Robert S. Greenwood, Yael Shiloh-Malawsky, Zheng Fan, Kirk C. Wilhelmsen, Ana Felix, Kristy Crooks, James P. Evans, Michael B. Tennison, Karen E. Weck, Myra I. Roche, Jonathan S. Berg
Publikováno v:
Journal of Neurology. 261:622-624
Autor:
Christian R. Tilley, Kirk C. Wilhelmsen, Natasha T. Strande, Roberto J. Guzman Badillo, Linran Zhou, Kristy Crooks, Krunal Amin, Laura V. Milko, Nizar Chahin, Jonathan S. Berg, Michael C. Adams, Robert S. Greenwood, Yael Shiloh-Malawsky, Michael B. Tennison, James P. Evans, Gloria T. Haskell, Chris Bizon, Zheng Fan, Karen E. Weck, Alicia Brandt
Publikováno v:
Neurology: Genetics
ObjectiveTo evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).MethodsWe performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not
Autor:
Cynthia M. Powell, Anna-Elina Lehesjoki, Jaana Tyynelä, Sabine Koch, Jessica M. Booker, Michael B. Tennison, Karen J. Fritchie, Diane Armao, Thomas Marino, Kinuko Suzuki, Leigh B. Thorne, Sanna Partanen, Eija Siintola
Publikováno v:
Acta Neuropathologica. 117:201-208
The neuronal ceroid lipofuscinoses (NCLs) are autosomal recessively inherited disorders collectively considered to be one among the most common pediatric neurodegenerative lysosomal storage diseases. Four main clinical subtypes have been described ba
Autor:
Iván Sánchez Fernández, Ketan K. Mane, Mohamad A. Mikati, Tobias Loddenkemper, Charles Schmitt, Michael B. Tennison, Alan Leviton, Kirk C. Wilhelmsen
Publikováno v:
Epilepsy & Behavior. 28:258-260
Autor:
O'Neill F. D'Cruz, Michael V. Miles, Michael B. Tennison, Bradley V. Vaughn, Robert S. Greenwood, Imran Ali
Publikováno v:
Therapeutic Drug Monitoring. 26:295-299
Salivary and serum levels of phenobarbital, carbamazepine, and phenytoin are closely correlated. Salivary monitoring of antiepileptic drugs has a number of advantages including the potential for home collection if measured levels are unaffected by tr
Publikováno v:
Epilepsy Research. 54:85-90
Rationale: Seizures may produce a variety of autonomic alterations. These alterations may occur due to evoked autonomic reflexes or as a direct cortical effect on autonomic control. In animal studies, lock step phenomena of interictal discharges to a
Publikováno v:
Seizure. 20:586-588
Prolonged, refractory status epilepticus is a rare clinical syndrome that is associated with severe morbidity and mortality. Lacosamide is a newly approved medication for treatment of partial onset seizures in adults, which has a novel mechanism of a