Epilepsy

Katja Kobow, Mark Ziemann, Harikrishnan Kaipananickal, Ishant Khurana, Angelika Mühlebner, Martha Feucht, Johannes A. Hainfellner, Thomas Czech, Eleonora Aronica, Tom Pieper, Hans Holthausen, Manfred Kudernatsch, Hajo Hamer, Burkhard S. Kasper, Karl Rössler, Valerio Conti, Renzo Guerrini, Roland Coras, Ingmar Blümcke, Assam El‐Osta, Antony Kaspi June 15, 2019

Abstract

Objectives

Focal cortical dysplasia (FCD) is a major cause of drug‐resistant focal epilepsy in children, and the clinicopathological classification remains a challenging issue in daily practice. With the recent progress in DNA methylation–based classification of human brain tumors we examined whether genomic DNA methylation and gene expression analysis can be used to also distinguish human FCD subtypes.… Read More...

Rikke S. Møller, Nora Liebmann, Line H. G. Larsen, Mathias Stiller, Julia Hentschel, Nahrain Kako, Dalia Abdin, Nataliya Di Donato, Deb K. Pal, Pia Zacher, Steffen Syrbe, Hans A. Dahl, Johannes R. Lemke June 15, 2019

Summary

Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies have reported the frequency of somatic mosaicism in parents of children with severe epileptic encephalopathies. Here we aim to investigate the frequency of mosaicism in the parents of children with epilepsy caused by alleged de novo variants.… Read More...

Chun‐Qing Zhang, Bryan McMahon, Huancheng Dong, Timothy Warner, Wangzhen Shen, Martin Gallagher, Robert L. Macdonald, Jing‐Qiong Kang June 15, 2019

Abstract

Objective

γ‐Aminobutyric acid type A (GABAA) receptor subunit gene mutations are significant causes of epilepsy, which are often accompanied by various neuropsychiatric comorbidities, but the underlying mechanisms are unclear. It has been suggested that the comorbidities are caused by seizures, as the comorbidities often present in severe epilepsy syndromes.… Read More...

Yao Wang, Xiu Wang, Jia‐jie Mo, Lin Sang, Bao‐tian Zhao, Chao Zhang, Wen‐han Hu, Jian‐guo Zhang, Xiao‐qiu Shao, Kai Zhang June 15, 2019

Abstract

Objective

Oroalimentary automatisms (OAAs) are common clinical manifestations of medial temporal lobe epilepsy. Nevertheless, the location of the symptomatogenic zone of OAAs remains unclear. The generation mechanism of OAAs also has not been clarified. We attempt to explain these problems by analyzing interictal [18F]‐fluorodeoxyglucose positron emission tomography (18FDG‐PET) imaging and ictal stereo‐electroencephalography (SEEG) recordings in patients with medial temporal lobe epilepsy.… Read More...

Srinivasa P. Kommajosyula, Carl L. Faingold June 15, 2019

Abstract

Objective

Sudden unexpected death in epilepsy (SUDEP) is a critical issue in epilepsy, and DBA/1 mice are a useful animal model of this devastating epilepsy sequela. The serotonin hypothesis for SUDEP proposes that modifying serotonergic function significantly alters susceptibility to seizure‐induced respiratory arrest (S‐IRA).… Read More...

Leah P. Dickstein, Jeih‐San Liow, Alison Austermuehle, Sami Zoghbi, Sara K. Inati, Kareem Zaghloul, Paolo Zanotti‐Fregonara, William H. Theodore June 15, 2019

Abstract

Objectives

Neuroinflammation, implicated in epilepsy, can be imaged in humans with positron emission tomography (PET) ligands for translocator protein 18 kDa (TSPO). Previous studies in patients with temporal lobe epilepsy and mesial temporal sclerosis found increased [11C]PBR28 uptake ipsilateral to seizure foci.… Read More...

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