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Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
heterogeneous group of paroxysmal sleep-related disturbances. The variable duration and …
Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder
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 …
identified, and is now delineated in detail. A phenotypically homogeneous group of five …