Epilepsy

Phillip L. Pearl, Annapurna Poduri, Sanjay P. Prabhu, Chellamani Harini, Richard Goldstein, Richard M. Atkinson, Dawna Armstrong, Hannah Kinney February 23, 2018

Summary

The histopathology, “white matter spongiosis,” defined by electron microscopy (EM) as “intramyelinic edema,” has been associated with vigabatrin therapy in various animal models, but its role or significance in clinical studies is unknown. We conducted a neuropathological examination on a 27-month-old boy with bilateral polymicrogyria and epilepsy after sudden unexpected death in epilepsy (SUDEP).

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Stuart M. Cain, John R. Tyson, Hyun-Beom Choi, Rebecca Ko, Paulo J. C. Lin, Jeffrey M. LeDue, Kim L. Powell, Louis-Philippe Bernier, Ravi L. Rungta, Yi Yang, Pieter R. Cullis, Terence J. O'Brien, Brian A. MacVicar, Terrance P. Snutch February 22, 2018

Summary

Objective

Genetic alterations have been identified in the CACNA1H gene, encoding the CaV3.2 T-type calcium channel in patients with absence epilepsy, yet the precise mechanisms relating to seizure propagation and spike-wave-discharge (SWD) pacemaking remain unknown. Neurons of the thalamic reticular nucleus (TRN) express high levels of CaV3.2 calcium channels, and we investigated whether a gain-of-function mutation in the Cacna1h gene in Genetic Absence Epilepsy Rats from Strasbourg (GAERS) contributes to seizure propagation and pacemaking in the TRN.

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Francesca Bisulli, Veronica Menghi, Luca Vignatelli, Laura Licchetta, Corrado Zenesini, Carlotta Stipa, Francesca Morigi, Matteo Gizzi, Patrizia Avoni, Federica Provini, Barbara Mostacci, Giuseppe d'Orsi, Tommaso Pippucci, Lorenzo Muccioli, Paolo Tinuper February 21, 2018

Summary

Objective

To assess the long-term outcome of epilepsy with auditory features (EAF) and to identify the clinical predictors for prognosis.

Methods

The study involved consecutive EAF patients with a follow-up of ≥5 years. Terminal remission (TR) was defined as a period of ≥5 consecutive years of seizure freedom at the last follow-up.

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Byung In Lee, Soon Kee No, Sang-Doe Yi, Hyang Woon Lee, Ok Joon Kim, Sang Ho Kim, Myeong Kyu Kim, Sung Eun Kim, Yo Sik Kim, Jae Moon Kim, Se-Jin Lee, Dong Jin Shin, Sung Pa Park, Yeong In Kim, Kyoung Heo, Yong Won Cho, Yang-Je Cho, Youn Nam Kim February 21, 2018

Long-term observational studies [1–3] illuminated outcomes of antiepileptic drug (AED) therapy in epilepsy. Prolonged seizure control is achieved in 47% of patients by the first drug and in another 13% by the second drug trial [1]. Those patients who failed to adequate trials of first two drug regimens respond poorly to further drug trials to fulfill the criteria of drug resistant epilepsies (DRE) [4].… Read More...

Iris M. de Lange, Marco J. Koudijs, Ruben Slot, Boudewijn Gunning, Anja C. M. Sonsma, Lisette J. J. M. van Gemert, Flip Mulder, Ellen C. Carbo, Marjan J. A. van Kempen, Nienke E. Verbeek, Isaac J. Nijman, Robert F. Ernst, Sanne M. C. Savelberg, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman February 20, 2018

Summary

Objective

Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. The most important determinant of disease severity is the type of variant, with variants that cause a complete loss of function of the SCN1A protein (α-subunit of the neuronal sodium channel Nav1.1) being detected almost exclusively in Dravet syndrome patients.

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Ravindra Arya, J. Adam Wilson, Hisako Fujiwara, Jennifer Vannest, Anna W. Byars, Leonid Rozhkov, James L. Leach, Hansel M. Greiner, Jason Buroker, Craig Scholle, Paul S. Horn, Nathan E. Crone, Douglas F. Rose, Francesco T. Mangano, Katherine D. Holland February 20, 2018

Summary

Objective

This prospective study compared the topography of high-gamma modulation (HGM) during a story-listening task requiring negligible patient cooperation, with the conventional electrical stimulation mapping (ESM) using a picture-naming task, for presurgical language localization in pediatric drug-resistant epilepsy.

Methods

Patients undergoing extraoperative monitoring with subdural electrodes were included.

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