Results 161 to 170 of about 143,154 (289)

Comprehensive Cytogenetic and Genomic Profiling of the Murine AML12 (Alpha Mouse Liver 12) Hepatocyte Cell Line. [PDF]

open access: yesCells
Asar DY   +7 more
europepmc   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan   +23 more
wiley   +1 more source

Ranking of antiseizure medications in a panel of focal seizure models predicts their comparative efficacy in clinical add‐on trials in drug‐resistant focal epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Most antiseizure medications (ASMs) have been discovered by testing in animal models, which are generally thought to predict antiseizure activity in patients. However, it is not known whether any of these models (or a combination of models) can predict whether a novel ASM exhibits higher clinical efficacy in focal drug‐resistant ...
Wolfgang Löscher, Pavel Klein
wiley   +1 more source

Abnormal functional connectivity patterns in temporal lobe epilepsy—An international ENIGMA‐epilepsy study

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Temporal lobe epilepsy (TLE) impacts multiple brain networks. Aberrant functional connectivity has been demonstrated in resting‐state networks (RSNs) that mediate higher brain functions in TLE. This study aimed to identify the reproducible patterns of altered functional connectivity in TLE in a large, international cohort through ...
Victoria Ives‐Deliperi   +28 more
wiley   +1 more source

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

Practical consensus recommendations for polytherapy involving stiripentol in Dravet syndrome: A nominal group approach

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Dravet syndrome (DS) is a drug‐resistant developmental and epileptic encephalopathy, often requiring three or more antiseizure medications (ASMs). Consequently, the therapeutic landscape is highly complex, combining DS‐specific agents (stiripentol, STP; cannabidiol, CBD; fenfluramine, FFA), non‐specific ASMs, and non‐pharmacologic ...
J. Helen Cross   +4 more
wiley   +1 more source

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