Results 261 to 270 of about 105,330 (339)

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

Fast cycle of vagus nerve stimulation is associated with increased sleep‐related breathing disorder in patients with epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective This work was undertaken to study the association between vagus nerve stimulation (VNS) parameters and the apnea–hypopnea index (AHI) measured by polysomnography in patients with drug‐resistant epilepsy. Methods Patients with epilepsy who underwent polysomnography with an active VNS device between 2018 and 2023 were retrospectively ...
Jacques‐François Massa   +8 more
wiley   +1 more source

Rhythms in longitudinal thalamic recordings are linked to seizure risk

open access: yesEpilepsia, EarlyView.
Abstract Objective Seizure unpredictability remains a major clinical challenge for people with epilepsy. Previous works have shown that seizure risk is associated with circadian and multi‐day cycles in both brain and physiological signals. However, it remains unclear whether neural activity from deep brain structures such as the anterior nucleus of the
Xinbing Zhang   +5 more
wiley   +1 more source

Epilepsy in emerging adulthood: Clinical, psychosocial, and surgical challenges

open access: yesEpilepsia, EarlyView.
Abstract Objective Emerging adulthood (EAs; ages 19–29 years) is a unique developmental stage marked by major psychological, social, and occupational transitions. We sought to characterize the clinical, psychosocial, and surgical features of epilepsy in emerging adulthood, considering both current age and age at epilepsy onset.
Graham A. McLeod   +26 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

Safety of SARS-CoV-2 test-to-stay in daycare: a regression discontinuity in time analysis

open access: yes, 2023
Dewald F   +28 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

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