Results 121 to 130 of about 118,836 (248)

Raising resilience: A parenting intervention for families affected by childhood epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman   +4 more
wiley   +1 more source

Prolonged fenfluramine use in open‐label studies of Dravet or Lennox–Gastaut syndromes: Long‐term safety, tolerability, patient global functioning, and considerations for interpreting effectiveness

open access: yesEpilepsia, EarlyView.
This graphical abstract provides an overview of the content from this open‐label extension study of fenfluramine use in patients with Dravet syndrome or Lennox‐Gastaut syndrome. Abstract Objective Long‐term safety and global functioning are reported in patients with Dravet syndrome (DS) or Lennox–Gastaut syndrome (LGS) treated with fenfluramine in an ...
Antonio Gil‐Nagel   +18 more
wiley   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

open access: yesEpilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee   +38 more
wiley   +1 more source

[Early myoclonic epileptic encephalopathy (EMEE) (author's transl)]

open access: yes, 1982
The authors describe the electroclinical and evolutive aspects of 4 cases (including 2 brothers) of myoclonic epileptic encephalopathy beginning between 2 days and 10 weeks of life.
M. Bureau   +5 more
core   +1 more source

Epileptogenic lesions in the Australian epilepsy project: A harmonized 3‐T magnetic resonance imaging protocol and its diagnostic yield

open access: yesEpilepsia, EarlyView.
Abstract Objective Detection of epilepsy‐causing structural brain lesions on magnetic resonance imaging (MRI) is critical for diagnosis, prognosis, and treatment planning in people with epilepsy. We aimed to establish an epilepsy‐directed multisite harmonized 3‐T MRI acquisition protocol for the Australian Epilepsy Project (AEP) and describe the ...
David N. Vaughan   +19 more
wiley   +1 more source

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

open access: yesEpilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper   +11 more
wiley   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

open access: yesEpilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta   +26 more
wiley   +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

open access: yesEpilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx   +192 more
wiley   +1 more source

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