Results 211 to 220 of about 28,537 (282)

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source

Disruption of functional gradients in genetic generalized epilepsy and its clinical relevance: evidence from high-density EEG

Zhang J, Rigoni I, Van De Ville D, Vulliémoz S, Roehri N.   +4 more
europepmc   +1 more source

Thalamic volume reduction in drug-naive patients with new-onset genetic generalized epilepsy. [PDF]

Epilepsia, 2018
Perani S, Tierney TM, Centeno M, Shamshiri EA, Yaakub SN, O'Muircheartaigh J, Carmichael DW, Richardson MP.   +7 more
europepmc   +1 more source

EEG findings in SERAC1‐related MEGD(H)EL syndrome

Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +1 more source

Biofluid‐specific variations in circulating 5′ transfer RNA fragments during ictal and interictal states in experimental temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Circulating small noncoding RNAs represent potential biomarkers of temporal lobe epilepsy (TLE). Recently, two transfer RNA fragments (tRFs), 5′tRF Glu‐CTC and Gly‐GCC, were found to be elevated in plasma samples collected in advance of a seizure in TLE patients, suggesting they may serve as potential wet biomarkers of seizure risk ...
Marie Soukupova, Elena Perez Morrissey, Annunziata Guarino, Pietro Marino, Cristiana Pareo, Nicolò Birtolo, Saad Zaheer, Rachel Stewart, Ina Woods, Felix Rosenow, Hajo Hamer, Péter Körtvélyessy, Shona Pfeiffer, David C. Henshall, Jochen H. M. Prehn, Michele Simonato   +15 more
wiley   +1 more source

CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low‐gamma oscillations and seizure susceptibility

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in the calcium/calmodulin‐dependent protein kinase II B gene (CAMK2B) have been associated with neurodevelopmental disorders, including epilepsy, yet the mechanisms underlying cortical dysfunction remain largely unclear.
Hiroki Mutoh, Kazushi Aoto, Atsuo Fukuda, Hirotomo Saitsu   +3 more
wiley   +1 more source

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy. [PDF]

Epilepsia Open, 2017
Becker F, Reid CA, Hallmann K, Tae HS, Phillips AM, Teodorescu G, Weber YG, Kleefuss-Lie A, Elger C, Perez-Reyes E, Petrou S, Kunz WS, Lerche H, Maljevic S.   +13 more
europepmc   +1 more source

Mental health of children with epilepsy in Ukraine during the war

Epilepsia, EarlyView.
Abstract Objective The ongoing conflict in Ukraine has created a severe humanitarian crisis, disproportionately affecting vulnerable populations such as children with chronic conditions. We set out to determine information about mental health in children with epilepsy in Ukraine affected by the conflict.
Volodymyr Kharytonov, J. Helen Cross, Andriy Dubenko, Samuel Wiebe, on behalf of the ILAE Emergency Task Force for Ukraine   +4 more
wiley   +1 more source

Unravelling the brain networks driving spike-wave discharges in genetic generalized epilepsy-common patterns and individual differences. [PDF]

Epilepsia Open, 2018
Klamer S, Ethofer T, Torner F, Sahib AK, Elshahabi A, Marquetand J, Martin P, Lerche H, Erb M, Focke NK.   +9 more
europepmc   +1 more source

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source