Gernert, Manuela Feja, Malte
Published in
Pharmaceutics
Epilepsies are common chronic neurological diseases characterized by recurrent unprovoked seizures of central origin. The mainstay of treatment involves symptomatic suppression of seizures with systemically applied antiseizure drugs (ASDs). Systemic pharmacotherapies for epilepsies are facing two main challenges. First, adverse effects from (often ...
Kowalczyk, Magdalena A Omidvarnia, Amir Dhollander, Thijs Jackson, Graeme D
Published in
Epilepsia
We use the dynamic electroencephalography-functional magnetic resonance imaging (EEG-fMRI) method to incorporate variability in the amplitude and field of the interictal epileptic discharges (IEDs) into the fMRI analysis. We ask whether IED variability analysis can (a) identify additional activated brain regions during the course of IEDs, not seen ...
AL-Eitan, Laith N Al-Dalala, Islam M Elshammari, Afrah K Khreisat, Wael H Nimiri, Aseel F Alnaamneh, Adan H Aljamal, Hanan A Alghamdi, Mansour A
Published in
Pharmacogenomics and Personalized Medicine
Purpose The aim of this study was to investigate the possible effects of single-nucleotide polymorphisms (SNPs) within SLC1A1, SLC6A1, FAM131B, GPLD1, F2, GABRG2, GABRA1, and CACNG5 genes on response to anti-epileptic drugs (AEDs) and the genetic predisposition of epilepsy in Jordanian patients. Patients and Methods A total of 299 healthy individua...
Liu, Liu Chen, Zi-Rong Xu, Hai-Qing Liu, De-Tian Mao, Yong Liu, Han-Kui Liu, Xiao-Rong Zhou, Peng Lin, Si-Mei Li, Bin
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Published in
Frontiers in neuroscience
To explore the phenotype spectrum of DEPDC5 variants and the possible mechanisms underlying phenotypical variation, we performed targeted next-generation sequencing in 305 patients with focal epilepsies and 91 patients with generalized epilepsies. Protein modeling was performed to predict the effects of missense mutations. All previously reported e...
Wagnon, Jacy L.
Published in
Epilepsy Currents
In Vivo CRISPRa Decreases Seizures and Rescues Cognitive Deficits in a Rodent Model of Epilepsy Colasante G, Qiu Y, Massimino L, et al. Brain . 2020;143(3):891-905. doi: 10.1093/brain/awaa045 Epilepsy is a major health burden, calling for new mechanistic insights and therapies. CRISPR-mediated gene editing shows promise to cure genetic pathologies,...
Anwar, Haleema Khan, Qudsia Umaira Nadeem, Natasha Pervaiz, Iqra Ali, Muhammad Cheema, Fatima Fayyaz
Published in
Discoveries
Epilepsy is a condition marked by abnormal neuronal discharges or hyperexcitability of neurons with synchronicity and is recognized as a major public health concern. The pathology is categorized into three subgroups: acquired, idiopathic, and epilepsy of genetic or developmental origin. There are approximately 1000 associated genes and the role of ...
Madani, Nadine O’Malley, Jennifer A. Porter, Brenda E. Baumer, Fiona M.
Published in
Journal of child neurology
Lacosamide, an anti-epileptic drug prescribed for children with refractory focal epilepsy, is generally well tolerated, with dose-dependent adverse effects. We describe 4 children who developed a movement disorder in conjunction with the initiation and/or uptitration of lacosamide. Three patients developed dyskinesias involving the face or upper ex...
Schroeder, Gabrielle M. Diehl, Beate Chowdhury, Fahmida A. Duncan, John S. de Tisi, Jane Trevelyan, Andrew J. Forsyth, Rob Jackson, Andrew Taylor, Peter N. Wang, Yujiang
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Published in
Proceedings of the National Academy of Sciences of the United States of America
Personalized medicine requires that treatments adapt to not only the patient but also changing factors within each individual. Although epilepsy is a dynamic disorder characterized by pathological fluctuations in brain state, surprisingly little is known about whether and how seizures vary in the same patient. We quantitatively compared within-pati...
Gil, Francisco Padilla, Nelly Soria-Pastor, Sara Setoain, Xavier Boget, Teresa Rumiá, Jordi Roldán, Pedro Reyes, David Bargalló, Núria Conde, Estefanía
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Published in
Cerebral cortex (New York, N.Y. : 1991)
Focal epilepsy can be conceptualized as a network disorder, and the functional epileptic network can be described as a complex system of multiple brain areas that interact dynamically to generate epileptic activity. However, we still do not fully understand the functional architecture of epileptic networks. We studied a cohort of 21 patients with e...
Hebbink, Jurgen Huiskamp, Geertjan van Gils, Stephan A Leijten, Frans S S Meijer, Hil G E
Published in
The European journal of neuroscience
Delineation of epileptogenic cortex in focal epilepsy patients may profit from single-pulse electrical stimulation during intracranial EEG recordings. Single-pulse electrical stimulation evokes early and delayed responses. Early responses represent connectivity. Delayed responses are a biomarker for epileptogenic cortex, but up till now, the precis...