Results 41 to 50 of about 2,345,783 (392)

The Sodium Channel B4-Subunits are Dysregulated in Temporal Lobe Epilepsy Drug-Resistant Patients [PDF]

, 2020
Temporal lobe epilepsy (TLE) is the most common type of partial epilepsy referred for surgery due to antiepileptic drug (AED) resistance. A common molecular target for many of these drugs is the voltage-gated sodium channel (VGSC).
Falciani, Francesco, Princivalle, Alessandra, Sheilabi, Mariam A., Sims, Edward J., Takeshita, Louise Y.   +4 more
core   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Metabolic syndrome and its associated factors among epileptic patients at Dessie Comprehensive Specialized Hospital, Northeast Ethiopia; a hospital-based comparative cross-sectional study.

PLoS ONE, 2022
IntroductionMetabolic syndrome is a group of metabolic risk factors which are associated with an increased risk of cardiovascular disease and type2 diabetes.
Altaseb Beyene Kassaw, Hiwot Tezera Endale, Kibur Hunie Tesfa, Meseret Derbew Molla   +3 more
doaj   +2 more sources

RESISTANT EPILEPSY FORMS, ASSOCIATED WITH FEVER-PROVOKED (FEBRILE) EPILEPTIC SEIZURES (DRAVET SYNDROME, DESC, HHE) (A LECTURE)

Русский журнал детской неврологии, 2015
The most important characteristics of resistant epilepsy forms, associated with fever-provoked (febrile) epileptic seizures (Dravet syndrome, DESC — Devastating epileptic encephalopathy in school-aged children, HHE — hemiconvul- sion-hemiplegia-epilepsy ...
M. Yu. Bobylova
doaj   +1 more source

Epileptic high-frequency network activity in a model of non-lesional temporal lobe epilepsy [PDF]

, 2010
High-frequency cortical activity, particularly in the 250–600 Hz (fast ripple) band, has been implicated in playing a crucial role in epileptogenesis and seizure generation. Fast ripples are highly specific for the seizure initiation zone.
Cmejla, Roman, Finnerty, Gerald T, Jefferys, John G R, Jiruska, Premysl, Lofti, Noosheen, Powell, Andrew D   +5 more
core   +3 more sources

Dravet Syndrome: A Developmental and Epileptic Encephalopathy

Epilepsy Currents, 2019
Selective Nav1.1 Activation Rescues Dravet Syndrome Mice From Seizures and Premature Death Richards KL, Milligan CJ, Richardson RJ, Jancovski N, Grunnet M, Jacobson LH, Undheim EAB, Mobli M, Chow CY, Herzig V, Csoti A, Panyi G, Reid CA, King GF, Petrou S.
L. Lopez-Santiago, L. Isom
semanticscholar   +1 more source

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

, 2017
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K, Clayton-Smith, J, Dabir, T, DDD Study, Evers, JMG, Josifova, D, Joss, S, Kerr, B, Kraus, A, Laskowski, RA, McEntagart, M, Morton, J, O'Brien, S, Smith, A, Splitt, M, Suri, M, Thornton, JM, Wright, CF   +17 more
core   +2 more sources

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Epileptic disorders, 2018
Mutations in the WWOX gene have been reported in a number of patients with various neurological disorders including spino-cerebellar ataxia, intellectual disability, epilepsy, and epileptic encephalopathy.
Qudsia Shaukat, J. Hertecant, A. El-Hattab, B. Ali, J. Suleiman   +4 more
semanticscholar   +1 more source

The social cognition of medical knowledge, with special reference to childhood epilepsy [PDF]

, 2009
This paper arose out of an engagement in medical communication courses at a Gulf university. It deploys a theoretical framework derived from a (critical) sociocognitive approach to discourse analysis in order to investigate three aspects of medical ...
Appleton R., Bourdieu P., Brett E. M., Coulthard M., De Bot K., Donaghy M., Drury J., Foucault M., Freire P., Gee J., Giroux H., Hamilton H. E., Hamilton H. E., Hamilton H. E., Hamilton H. E., Hamilton H. E., Hamilton H. E., Hopkins A., Institoris H., John O' Regan, Johnson-Laird P. N., Kurtz Z., Makoni S., Makoni S., Malcolm N. MacDonald, Minsky M., Moscovici S., Ramanathan V., Richard Badger, Roberts C., Rumelhart D. E., Schank R. C., Swales J., Van Dijk T. A., Van Dijk T. A., Van Dijk T. A., Van Dijk T. A., Van Dijk T.A., Van Dijk T.A., Van Dijk T.A.   +39 more
core   +3 more sources

Not all SCN1A epileptic encephalopathies are Dravet syndrome

Neurology, 2017
Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. Methods: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy
L. Sadleir, Emily Mountier, D. Gill, S. Davis, Charuta N. Joshi, C. Devile, M. Kurian, S. Mandelstam, E. Wirrell, K. Nickels, H. Murali, G. Carvill, Candace T. Myers, H. Mefford, I. Scheffer   +14 more
semanticscholar   +1 more source