[email protected] ) Epilepsy Translation Autism eEF1A2 Mouse References Abbott , C. ( 1993 ). Genomic analysis of transgenic animals by the polymerase chain reaction . Methods Mol. Biol. 18 , 317 - 321 . 10.1385/0-89603-245-0:317 Bolz , L. , Heigele , S...

... phenotype characterized by childhood onset of progressive and intractable myoclonic seizures accompanied by developmental regression. KCTD7 -driven disease is part of a large family of progressive myoclonic epilepsy syndromes displaying a broad spectrum of clinical severity. Animal models of KCTD7 -related...

... advantages for rapid genetic manipulation and high-throughput phenotype-based drug screening. Combining these seizure assays with genetically modified zebrafish that represent Dravet syndrome, a rare genetic epilepsy, ultimately contributed to a phenotype-based screen of over 3500 drugs. Several drugs...

... morphological characteristics of mutant and wild-type littermates. But what if we are trying to model a disorder with a phenotype that appears only sporadically and briefly, like epileptic seizures? The purpose of this Review is to highlight the challenges of modelling epilepsy, in which the most obvious...

...Meijiang Liao; Uday Kundap; Richard E. Rosch; Dominic R. W. Burrows; Martin P. Meyer; Bouchra Ouled Amar Bencheikh; Patrick Cossette; Éric Samarut ABSTRACT Epilepsy is a common primary neurological disorder characterized by the chronic tendency of a patient to experience epileptic seizures, which...

...Tamio Furuse; Hiroshi Mizuma; Yuuki Hirose; Tomoko Kushida; Ikuko Yamada; Ikuo Miura; Hiroshi Masuya; Hiromasa Funato; Masashi Yanagisawa; Hirotaka Onoe; Shigeharu Wakana ABSTRACT Dysfunction of glucose transporter 1 (GLUT1) proteins causes infantile epilepsy, which is designated as a GLUT1...

...Elizabeth Kelly; Devdutt Sharma; Christopher J. Wilkinson; Robin S. B. Williams ABSTRACT Valproic acid (VPA) provides a common treatment for both epilepsy and bipolar disorder; however, common cellular mechanisms relating to both disorders have yet to be proposed. Here, we explore the possibility...

...Hatylas Azevedo; Nathália Amato Khaled; Paula Santos; Fernanda Bernardi Bertonha; Carlos Alberto Moreira-Filho ABSTRACT Complex febrile seizures during infancy constitute an important risk factor for development of epilepsy. However, little is known about the alterations induced by febrile seizures...

...Philipp Follwaczny; Rico Schieweck; Therese Riedemann; Antonia Demleitner; Tobias Straub; Anna H. Klemm; Martin Bilban; Bernd Sutor; Bastian Popper; Michael A. Kiebler ABSTRACT Epilepsy is a neurological disease that is caused by abnormal hypersynchronous activities of neuronal ensembles leading...

...Wei-Hsiang Lin; Carlo N. G. Giachello; Richard A. Baines ABSTRACT Epilepsy is a significant disorder for which approximately one-third of patients do not respond to drug treatments. Next-generation drugs, which interact with novel targets, are required to provide a better clinical outcome...