Results 191 to 200 of about 366,321 (288)

L‐Relationship between uncertainty and average seizure frequency in clinical trials of antiseizure medications

open access: yesEpilepsia, EarlyView.
Abstract Objective Antiseizure medications are approved based on clinical trials that demonstrate their efficacy as measured by reductions in seizure frequency (SF). When designing these trials, trialists must select inclusion criteria where SF can be reliably measured to maintain statistical power.
Wesley T. Kerr   +6 more
wiley   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

open access: yesEpilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy   +8 more
wiley   +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

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer   +26 more
wiley   +1 more source

Ictal–interictal continuum and status epilepticus: Two sides of the same coin? A prospective magnetic resonance imaging study

open access: yesEpilepsia, EarlyView.
Abstract Objective Status epilepticus (SE) is the most severe expression of seizures, encompassing both SE with prominent motor symptoms and nonconvulsive SE (NCSE). Ictal–interictal continuum (IIC), an electroencephalographic phenomenon, is characterized by periodic discharges (PD), spike‐and‐waves or sharp‐and‐waves (SW), or lateralized rhythmic ...
Pilar Bosque‐Varela   +15 more
wiley   +1 more source

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