Epilepsy

Anna Rosati, Lucrezia Ilvento, Ersilia Lucenteforte, Alessandra Pugi, Giada Crescioli, Kathleen S. McGreevy, Gianni Virgili, Alessandro Mugelli, Salvatore De Masi, Renzo Guerrini December 22, 2017

Summary

Objective

To estimate the comparative efficacy among antiepileptic drugs in the pediatric population (0-18 years).

Methods

Using the Embase and MEDLINE databases, we updated to February 2017 the search strategy of the National Institute for Health and Care Excellence guidelines for epilepsy.

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Kenneth A. Myers, Steven Nasioulas, Amber Boys, Jacinta M. McMahon, Howard Slater, Paul Lockhart, Desirée du Sart, Ingrid E. Scheffer December 21, 2017

Summary

Objective

To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes at the 5q14.3 chromosomal locus in myoclonic epilepsy.

Methods

We studied the epilepsy phenotypes of 4 individuals with 5q14.3 deletion and found that all had myoclonic seizures.

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Stephanie L. Vanhoof-Villalba, Nicole M. Gautier, Vikas Mishra, Edward Glasscock December 19, 2017

Summary

Objectives

Antiseizure drugs are the leading therapeutic choice for treatment of epilepsy, but their efficacy is limited by pharmacoresistance and the occurrence of unwanted side effects. Here, we examined the therapeutic efficacy of KCNQ channel activation by retigabine in preventing seizures and neurocardiac dysfunction in 2 potassium channelopathy mouse models of epilepsy with differing severity that have been associated with increased risk of sudden unexpected death in epilepsy (SUDEP): the Kcna1−/− model of severe epilepsy and the Kcnq1A340E/A340E model of mild epilepsy.

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Andrew T. Knox, Tracy Glauser, Jeffrey Tenney, William W. Lytton, Katherine Holland December 19, 2017

Summary

Objective

Childhood absence epilepsy (CAE) is a genetic generalized epilepsy syndrome with polygenic inheritance, with genes for γ-aminobutyric acid (GABA) receptors and T-type calcium channels implicated in the disorder. Previous studies of T-type calcium channel electrophysiology have shown genetic changes and medications have multiple effects.

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Maria I. Patrício, Alun R. Barnard, Alexander L. Green, Matthew J. During, Arjune Sen, Robert E. MacLaren December 19, 2017

Epilepsy is a common neurological condition characterised by recurrent unprovoked seizures and often treatable with appropriate medication. However, almost 30% of cases are pharmacoresistant and while a proportion of these may be amenable to respective surgery, a gene therapy approach could be an attractive alternative option.… Read More...

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