Results 231 to 240 of about 774,994 (289)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan   +20 more
wiley   +1 more source

Clinical use and radiological yield of magnetic resonance fingerprinting in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Magnetic resonance fingerprinting (MRF) is a novel paradigm for magnetic resonance imaging (MRI) that efficiently generates multiparametric quantitative tissue property maps with a single acquisition. Its quantitative nature offers many advantages over conventional MRI.
Maksim Parfyonov   +11 more
wiley   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

open access: yesEpilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon   +9 more
wiley   +1 more source

Substitution of Glu to Lys at Codon 332 on the GFAP Gene Alone Is Causative for Adult-onset Alexander Disease. [PDF]

open access: yesIntern Med
Sanjo N   +11 more
europepmc   +1 more source

Quantitative electroencephalographic measures during postmalarial epileptogenesis

open access: yesEpilepsia, EarlyView.
Abstract Objective Severe malaria with neurologic involvement contributes significantly to the global burden of acquired pediatric epilepsy. We studied quantitative electroencephalographic (EEG) measures in postmalarial epileptogenesis. Methods A total of 186 patients, aged 6 months to 11 years, with confirmed central nervous system malaria were ...
Rasesh B. Joshi   +14 more
wiley   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara   +7 more
wiley   +1 more source

Impact of cenobamate on cortical responses to transcranial magnetic stimulation in people with drug‐resistant focal epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Cenobamate (CNB) is an effective antiseizure medication, though its mechanisms of efficacy remain incompletely understood. We assessed changes in cortical responses to transcranial magnetic stimulation (TMS) following CNB treatment.
Silvano R. Gefferie   +7 more
wiley   +1 more source

ILAE‐YES global webinar series: Integrating clinical and basic science in epilepsy research

open access: yesEpilepsia Open, EarlyView.
An ILAE‐YES global webinar series bridging basic and clinical epilepsy research inspired new research ideas in 80% of participants. Abstract Summary Bridging clinical and basic research is increasingly recognized as a priority in the epilepsy field, yet opportunities for integration remain limited by the time, space, and financial constraints of ...
Cecilie G. Nome   +22 more
wiley   +1 more source

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