Results 81 to 90 of about 5,863 (207)

Acetazolamide Monotherapy for Myoclonic Epilepsy

Pediatric Neurology Briefs, 1990
Chronic acetazolamide monotherapy controlled generalized tonic-clonic seizures in 14 of 31 patients with juvenile myoclonic-86-epilepsy treated in the Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, and the ...
J Gordon Millichap
doaj   +1 more source

The Effect of the Anticonvulsant Topiramate on Acetylcholine‐Induced Calcium Signals is Linked to Sirt‐1 Activity

European Journal of Neuroscience, Volume 63, Issue 9, May 2026.
This work provides a potential new link between the anticonvulsive Topiramate, the deacetylase Sirt‐1 and the cholinergic signalling, suggesting that Topiramate may modulate cholinergic pathways in a Sirt‐1 depended manner. ABSTRACT Although some forms of epilepsy directly result from mutations in nicotinic acetylcholine receptors, none of the ...
Marie‐Luise Kümmel
wiley   +1 more source

Juvenile myoclonic epilepsy: Psychiatric comorbidity and impact on outcome

, 2013
Juvenile myoclonic epilepsy (JME) is a well-defined age-related idiopathic epilepsy syndrome. Past studies have emphasized the difficulties in the treatment of patients with JME, which have been attributed to some specific psychiatric, psychological, and
Targas Yacubian, Elza Marcia [UNIFESP], Araujo Filho, Gerardo Maria de [UNIFESP]   +1 more
core   +1 more source

Syndrome‐specific and familial imaging traits in juvenile absence epilepsy

Epilepsia, Volume 67, Issue 4, Page 1887-1900, April 2026.
Abstract Objective Juvenile absence epilepsy (JAE) is an idiopathic generalized epilepsy characterized by absences, generalized tonic–clonic seizures, and cognitive difficulties. In contrast to juvenile myoclonic epilepsy (JME), where distinct functional and structural brain alterations are well established, it remains unclear whether comparable ...
Fenglai Xiao, Lorenzo Caciagli, Luisa Delazer, Sjoerd Vos, Karin Trimmel, Louis Andre Van Graan, Marine Fleury, Lawrence Binding, Davide Giampiccolo, Dominic Heaney, Sanjeev Rajakulendran, Maria Centeno, Josemir W. Sander, John S. Duncan, Matthias J. Koepp, Britta Wandschneider   +15 more
wiley   +1 more source

Genetic analysis of human absence epilepsy

, 2010
Idiopathic Mendelian epilepsies have been typically identified as channelopathies. Evidence suggests that mutations in genes encoding GABAA receptors, GABAB receptors or voltage-dependent calcium channels (VDCCs) may underlie childhood absence epilepsy ...
Robinson, R.A.
core  

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, Volume 67, Issue 4, Page 1945-1960, April 2026.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Thalamocortical Structural and Functional Connectivity in Juvenile Myoclonic Epilepsy

Pediatric Neurology Briefs, 2013
Researchers at King’s College, Institute of Psychiatry, London and other centers in the UK, US, and Germany discovered changes in an anterior thalamo-cortical bundle during tests of structural connectivity, as measured by diffusion tensor imaging, in a ...
J Gordon Millichap
doaj   +1 more source

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

, 2009
We report on an adolescent female with Velocardiofacial syndrome (del(22)(q11.2)) and an epilepsy phenotype resembling juvenile myoclonic epilepsy (JME). Clinically, the patient has characteristic signs of both disorders.
Beck-Wödl, S, Riegel, Mariluce, Lemke, J R, Krämer, Günter, Dorn, Thomas, Beck-Wödl, Stefanie, Zankl, Andreas, Dorn, T, Zankl, A, Krämer, G, Lemke, Johannes R., Riegel, M, Lemke, Johannes R   +12 more
core   +1 more source

Epilepsy phenotype in patients with Xp22.31 microduplication

Epilepsy and Behavior Case Reports, 2019
The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities.
Mario Brinciotti, Francesca Fioriello, Antonio Mittica, Laura Bernardini, Marina Goldoni, Maria Matricardi   +5 more
doaj   +1 more source

Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy

Frontiers in Neurology, 2019
Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication.
Sarah Martin, Sarah Martin, Adam Strzelczyk, Adam Strzelczyk, Adam Strzelczyk, Silvia Lindlar, Silvia Lindlar, Kristina Krause, Kristina Krause, Philipp S. Reif, Philipp S. Reif, Katja Menzler, Katja Menzler, Andreas G. Chiocchetti, Andreas G. Chiocchetti, Felix Rosenow, Felix Rosenow, Felix Rosenow, Susanne Knake, Susanne Knake, Karl Martin Klein, Karl Martin Klein, Karl Martin Klein, Karl Martin Klein   +23 more
doaj   +1 more source