Results 241 to 250 of about 357,603 (305)

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

open access: yesEpilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis   +8 more
wiley   +1 more source

Cognitive and behavioral clinical outcome assessments in children with developmental and epileptic encephalopathies: Issues and instruments

open access: yesEpilepsia, EarlyView.
Abstract Children with developmental and epileptic encephalopathies (DEEs) face cognitive and behavioral challenges that may have a greater impact than seizures on their quality of life (QoL). The need to assess these nonseizure outcomes for evaluating treatments is increasingly recognized.
Cinzia Correale   +9 more
wiley   +1 more source

Tonic–clonic seizures captured during ambulatory video‐EEG are frequently unreported

open access: yesEpilepsia, EarlyView.
Abstract Objective Tonic–clonic seizures (TCSs) are widely regarded as clinically obvious, yet seizure counts used for treatment decisions and risk counseling often rely on patient or caregiver diaries. We sought to quantify the frequency of unreported TCSs during prolonged ambulatory video‐EEG (vEEG) monitoring and examined associations with ...
Ewan S. Nurse   +3 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

Beyond seizures: A multidimensional approach to non‐seizure issues in Lennox–Gastaut syndrome. Insights from Italian experts

open access: yesEpilepsia Open, EarlyView.
Abstract Non‐seizure issues (NSIs), including cognition, behavior/psychiatric symptoms, adaptive and social functioning, sleep, autonomic, and motor impairments, often shape day‐to‐day outcomes in Lennox–Gastaut syndrome (LGS) more than seizures, yet clinicians lack LGS‐specific, feasible assessment pathways.
Giancarlo Di Gennaro   +7 more
wiley   +1 more source

Characteristics and long‐term outcomes of children with confirmed focal cortical dysplasia type 1 after epilepsy surgery: A population‐based study

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Focal cortical dysplasia type 1 (FCD1) is a rare and heterogeneous cause of drug‐resistant epilepsy (DRE) in children. Its clinical characteristics remain poorly understood, and surgical outcomes may be less favorable than in FCD2. We conducted a population‐based study to characterize the clinical presentation and long‐term seizure ...
Vincent Zheng   +9 more
wiley   +1 more source

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