Epilepsy

Jeffrey D. Calhoun, Nicole A. Hawkins, Nicole J. Zachwieja, Jennifer A. Kearney September 3, 2017

Summary

Dravet syndrome, an early onset epileptic encephalopathy, is most often caused by de novo mutation of the neuronal voltage-gated sodium channel gene SCN1A. Mouse models with deletion of Scn1a recapitulate Dravet syndrome phenotypes, including spontaneous generalized tonic–clonic seizures, susceptibility to seizures induced by elevated body temperature, and elevated risk of sudden unexpected death in epilepsy.

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Weifeng Peng, Jessica L. Danison, Masud Seyal September 3, 2017

Summary

Objective

Sudden unexpected death in epilepsy (SUDEP) is a common cause of death in epilepsy and frequently occurs following generalized tonic–clonic seizures (GTCS) in sleep. Postictal generalized electroencephalography (EEG) suppression (PGES), postictal immobility, and periictal respiratory dysfunction are potential risk factors for SUDEP.

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Timothy A. Simeone, Stephanie A. Matthews, Kristina A. Simeone September 3, 2017

Summary

Objective

We have previously found that the transcription factor peroxisome proliferator-activated receptor γ (PPARγ) contributes to the mechanism of action of the ketogenic diet (KD), an established treatment for pediatric refractory epilepsy. We have found that the KD increases brain PPARγ and that inhibition or genetic loss of PPARγ prevents the antiseizure effects of the KD on (1) acutely induced seizures in nonepileptic mice and (2) spontaneous recurrent seizures in epileptic mice.

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Raquel Farias-Moeller, Luca Bartolini, Katelyn Staso, John M. Schreiber, Jessica L. Carpenter September 3, 2017

Summary

Objective

Febrile infection–related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy described as explosive onset of super refractory status epilepticus (SRSE) in previously healthy children. We describe electroencephalography (EEG) abnormalities in the hyperacute phase of FIRES, with the aim of contributing to the diagnostic characterization of a syndrome otherwise lacking specific biomarkers.

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Tanja S. Kellermann, Martina Mueller, Emma G. Carter, Byron Brooks, Gigi Smith, Olivia J. Kopp, Janelle L. Wagner September 3, 2017

Summary

Objective

Proper assessment and early identification of depressive symptoms are essential to initiate treatment and minimize the risk for poor outcomes in youth with epilepsy (YWE). The current study examined the predictive utility of the Neurological Disorders Depression Inventory-Epilepsy for Youth (NDDI-E-Y) and the Neuro-QOL Depression Short Form (Neuro-QOL SF) in explaining variance in overall depressive symptoms and specific symptom clusters on the gold standard Children’s Depression Inventory-2 (CDI-2).

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Tram Pham, Khara M. Sauro, Scott B. Patten, Samuel Wiebe, Kirsten M. Fiest, Andrew G. M. Bulloch, Nathalie Jetté September 3, 2017

Summary

The objectives of this study were to estimate the prevalence of, and factors associated with, anxiety in epilepsy. We conducted a cross-sectional analysis using data from the Neurological Disease and Depression Study. The prevalence of anxiety and associated factors were assessed using descriptive statistics and logistic regression.

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Ben F. M. Wijnen, Loes A. M. Leenen, Reina J. A. Kinderen, Caroline M. Heugten, Marian H. J. M. Majoie, Silvia M. A. A. Evers September 3, 2017

Summary

Objective

The objective of this (trial-based) economic evaluation was, from a societal perspective, to compare the cost-effectiveness of a multicomponent self-management intervention (MCI) with care as usual (CAU) in adult patients with epilepsy over a 12-month period.

Methods

In a randomized-controlled trial, participants were randomized into intervention or CAU group.

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Xuan Huang, Chengwen Zhou, Mengnan Tian, Jing-Qiong Kang, Wangzhen Shen, Kelienne Verdier, Aurea Pimenta, Robert L. MacDonald September 3, 2017

Summary

Objective

The mutant γ-aminobutyric acid type A (GABAA) receptor γ2(Q390X) subunit (Q351X in the mature peptide) has been associated with the epileptic encephalopathy, Dravet syndrome, and the epilepsy syndrome genetic epilepsy with febrile seizures plus (GEFS+). The mutation generates a premature stop codon that results in translation of a stable truncated and misfolded γ2 subunit that accumulates in neurons, forms intracellular aggregates, disrupts incorporation of γ2 subunits into GABAA receptors, and affects trafficking of partnering α and β subunits.

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Taku Uchida, Christoph Lossin, Yukiko Ihara, Masanobu Deshimaru, Yuchio Yanagawa, Susumu Koyama, Shinichi Hirose September 3, 2017

Summary

Objective

Mutations of the KCNQ2 gene, which encodes the Kv7.2 subunit of voltage-gated M-type potassium channels, have been associated with epilepsy in the neonatal period. This developmental stage is unique in that the neurotransmitter gamma aminobutyric acid (GABA), which is inhibitory in adults, triggers excitatory action due to a reversed chloride gradient.

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