Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - Elsevier
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

P Tinuper, F Bisulli, JH Cross, D Hesdorffer, P Kahane… - Neurology, 2016 - neurology.org
The syndrome known as nocturnal frontal lobe epilepsy is recognized worldwide and has
been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine …

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on …

K Riney, A Bogacz, E Somerville, E Hirsch… - …, 2022 - Wiley Online Library
The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes
that have a variable age of onset, based on expert consensus of the International League …

Эпилепсия у детей и взрослых женщин и мужчин

ВА Карлов - 2019 - elibrary.ru
В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …

Contribution of somatic Ras/Raf/mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy

S Khoshkhoo, Y Wang, Y Chahine… - JAMA …, 2023 - jamanetwork.com
Importance Mesial temporal lobe epilepsy (MTLE) is the most common focal epilepsy
subtype and is often refractory to antiseizure medications. While most patients with MTLE do …

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

OK Steinlein, JC Mulley, P Prop**, RH Wallace… - Nature …, 1995 - nature.com
Epilepsy affects at least 2% of the population at some time in their lives1. The epilepsies are
a heterogeneous group of disorders, many with an inherited component2. Although specific …

Epidemiology of the epilepsies

JW Sander, SD Shorvon - Journal of neurology, neurosurgery …, 1996 - pmc.ncbi.nlm.nih.gov
Accurate diagnostic and case ascertainment methods area prerequisite for epidemiological
research. In epilepsy, a common problem is diagnostic accuracy as it can bediagnosed only …

Nicotinic acetylcholine receptors: from structure to brain function

RC Hogg, M Raggenbass, D Bertrand - Reviews of physiology …, 2003 - Springer
Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels and can be
divided into two groups: muscle receptors, which are found at the skeletal neuromuscular …

Nocturnal frontal lobe epilepsy: a clinical and polygraphic overview of 100 consecutive cases

F Provini, G Plazzi, P Tinuper, S Vandi, E Lugaresi… - Brain, 1999 - academic.oup.com
Nocturnal frontal lobe epilepsy (NFLE) has been delineated as a distinct syndrome in the
heterogeneous group of paroxysmal sleep-related disturbances. The variable duration and …

Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder

IE Scheffer, KP Bhatia, I Lopes-Cendes, DR Fish… - Brain, 1995 - academic.oup.com
The disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been
identified, and is now delineated in detail. A phenotypically homogeneous group of five …