Results 21 to 30 of about 88,373 (350)

Gastrointestinal and Autonomic Symptoms—How to Improve the Diagnostic Process in Panayiotopoulos Syndrome?

Children, 2022
One of the most common epileptic disorders in the pediatric population is Panayiotopoulos syndrome. Clinical manifestations of this idiopathic illness include predominantly autonomic symptoms and dysfunction of the cardiorespiratory system.
Aneta Zontek, Justyna Paprocka
doaj   +1 more source

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish. [PDF]

, 2016
Mutations in the synaptic machinery gene syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to childhood epilepsies and other neurodevelopmental disorders.
Baraban, Scott C, Grone, Brian P, Hamling, Kyla R, Krasniak, Christopher S, Kumar, Maneesh G, Marchese, Maria, Patel, Manisha, Santorelli, Filippo M, Sicca, Federico   +8 more
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EPILEPSY ASSOCIATED WITH EPILEPTIC EYELID MYOCLONIA WITH OR WITHOUT ABSENCES

Эпилепсия и пароксизмальные состояния, 2016
Epileptic eyelid myoclonia with or without absences  – epileptic seizures  presented  with closing of eyes  and frequent (3-6 times  per second)  rhythmic  myoclonias  of eyelids («eyelid fluttering»).
M. B. Mironov, M. Yu. Bobylova, M. O. Abramov, T. M. Krasilshchikova, A. N. Zavadenko, I. O. Shchederkina, А. S. Petrukhin   +6 more
doaj   +1 more source

A conundrum of West syndrome, behavioural problems and parental expressed emotions: a case report

General Psychiatry, 2020
West syndrome (WS) is the most common epileptic syndrome in infancy characterised by epileptic spasms, hypsarrhythmia and neurodevelopmental problems. Epileptic spasms remain in many ways a conundrum, and the ideal intervention, as well as how to screen ...
Yogender Kumar Malik, Nidhi Chauhan, Akhilesh Sharma, Susanta Padhy   +3 more
doaj   +1 more source

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
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EPILEPTIC SPASMS

Русский журнал детской неврологии, 2015
Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and ...
K. Yu. Mukhin, M. B. Mironov
doaj   +1 more source

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]

, 2014
The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia, Giulivi, Cecilia, Napoli, Eleonora   +2 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
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International Veterinary Epilepsy Task Force consensus proposal: Medical treatment of canine epilepsy in Europe [PDF]

, 2015
In Europe, the number of antiepileptic drugs (AEDs) licensed for dogs has grown considerably over the last years. Nevertheless, the same questions remain, which include, 1) when to start treatment, 2) which drug is best used initially, 3) which ...
A Fischer, A Khoutorsky, A Tipold, AJ Streeter, AJ Wilensky, AK Cook, Akos Pakozdy, AM Kiviranta, Andrea Fischer, Andrea Tipold, B Dayrell-Hart, BF Bourgeois, C O'Dell, C Rundfeldt, C Rundfeldt, CH Gulløv, CL Gaskill, CL Gaskill, Clare Rusbridge, CW Dewey, CW Dewey, CW Dewey, D Ruehlmann, D Schwartz-Porsche, DJ Morton, DM Boothe, DM Boothe, DW Chadwick, DW Kaufman, Edward E. Patterson, EE Patterson, ES Nichols, F Al-Tahan, G Hussein, G Jacobs, GC Farnbach, GD Montouris, GD Thurman, GJ Sills, GW Caldwell, H Freitag, HA Volk, HE Baird-Heinz, Heidrun Potschka, HH Frey, HH Frey, HM Wright, Holger A. Volk, HS White, IC Wong, IE Leppik, IH Shaik, J Janszky, J Speciale, J Weissl, Jacques Penderis, JJ Shih, JJ Shih, JM Pellock, JT Yarrington, JY Chung, K Orito, KA Lyseng-Williamson, Karen Muñana, Kaspar Matiasek, KL Weiss, KR Muñana, KR Muñana, KR Muñana, L Alves, L Risio De, LA Trepanier, LA Trepanier, LA Trepanier, LA Trepanier, LD Cahan, LJ Stephen, LL Radulovic, Luisa De Risio, M Berendt, M Berendt, M Bialer, M Charalambous, M Govendir, M Podell, M Podell, M Podell, M Podell, M Schwartz, M Taverna, M1 Contin, MA Rogawski, Mette Berendt, MFD Steinberg, Michael Podell, ML Miller, N Scola, P Jull, P Kwan, PA March, PA March, Paul J.J. Mandigers, PB Müller, PN Patsalos, R Monteiro, RD Elterman, RE Levitski, RM Packer, Robyn G. Farquhar, RS Hess, S Daminet, S Rieck, S Shorvon, SA Kube, SA Moore, SA Moore, Sam Long, SD Forrester, SD Shorvon, SE Bunch, SE Martinez, SI Johannessen, Simon Platt, SM Roche La, SO Wagner, Sofie F.M. Bhatti, SR Platt, T Glauser, T Hojo, T Klopmann von, T Klopmann von, TA Glauser, TL Gieger, TL Gieger, TP Sutula, V Hülsmeyer, V Salazar, VE Adusumalli, Veronika M. Stein, W Löscher, W Löscher, WB Thomas, WB Thomas, WM Pedersoli, Wolfgang Löscher, WR Garnett, WR Ravis, WR Ravis, Y Heynold   +148 more
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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