Epilepsy

Hemav Rajbhandari, Sweta Joshi, Shankar Malakar, Prakash Paudel, Priya Jain, Kapil Uppadaya, Mamta Singh, Victor Patterson December 11, 2018

The majority of people with epilepsy in the world live in low or middle income countries (LMICs) [1]. These countries have high treatment gaps – the percentage of people with epilepsy not on treatment. These range from 50 to 90% and are larger in rural areas than in cities [2].… Read More...

Francesca M. Snoeijen‐Schouwenaars, Jans S. van Ool, Judith S. Verhoeven, Petra Mierlo, Hilde M. H. Braakman, Eric E. Smeets, Joost Nicolai, Jeroen Schoots, Mariel W. A. Teunissen, Rob P. W. Rouhl, In Y. Tan, Helger G. Yntema, Han G. Brunner, Rolph Pfundt, Alexander P. Stegmann, Erik‐Jan Kamsteeg, Helenius J. Schelhaas, Marjolein H. Willemsen December 9, 2018

Summary

Objective

Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole exome sequencing (WES).… Read More...

Mathieu Kuchenbuch, Pascal Benquet, Anna Kaminska, Agathe Roubertie, Emilie Carme, Anne Saint Martin, Edouard Hirsch, Fanny Dubois, Cécile Laroche, Giulia Barcia, Nicole Chemaly, Matthieu Milh, Nathalie Villeneuve, Paul Sauleau, Julien Modolo, Fabrice Wendling, Rima Nabbout December 9, 2018

Summary

Objective

We aimed to characterize epilepsy of infancy with migrating focal seizures (EIMFS), a rare, severe early onset developmental epilepsy related to KCNT1 mutation, and to define specific electroencephalography (EEG) markers using EEG quantitative analysis. The ultimate goal would be to improve early diagnosis and to better understand seizure onset and propagation of EIMFS as compared to other early onset developmental epilepsy.… Read More...

Amir M. Arain, Azaz Umar, Pawan Rawal, Nabil J. Azar, Mahmoud Obideen, Pradumna Singh, Muhammad Al-Kaylani, Bassel Abou-Khalil December 7, 2018

Ictal turning prone (ITP) was first described by Saygi et al as an ictal feature of frontal lobe “complex partial seizures” that distinguished them from psychogenic nonepileptic seizures with otherwise similar semiology [1]. Ictal turning prone can be considered a variation on “ictal body turning along the horizontal axis” described by Leung et al as a sign that helped further localize frontal lobe complex partial seizures [2].… Read More...

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