MBOAT7 encephalopathy: Characterizing the neurology and epileptology
Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa+28 more
wiley +1 more source
Transcutaneous auricular vagus nerve stimulation improves cortical functional topological properties and intracortical facilitation in patients with Parkinson's disease. [PDF]
Zhang H+10 more
europepmc +1 more source
Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli+68 more
wiley +1 more source
Tailoring antiseizure treatment with a wearable device: A proof‐of‐concept study in absence epilepsy
Abstract Objective Typical absence seizures are underreported. We aimed to improve patient care using a wearable electroencephalograph (wEEG) at home and assess a machine learning (ML) pipeline for absence detection. Methods Patients with typical absences used a wEEG device 12–24 h 1 week after antiseizure medication (ASM) adjustments.
Jaiver Macea+4 more
wiley +1 more source
Feasibility of trancutaneous auricular vagus nerve stimulation in Black and Hispanic/Latino people with peripheral neuropathy. [PDF]
Wong ML+8 more
europepmc +1 more source
Abstract Objective Deep brain stimulation of the centromedian nucleus of the thalamus (CM‐DBS) is an investigational, off‐label treatment for drug‐resistant epilepsy (DRE) in children. Although emerging evidence supports its safety and efficacy for select indications, the effect of CM‐DBS on quality of life and functional outcomes such as school ...
Karim Mithani+21 more
wiley +1 more source
Vagus nerve stimulation (VNS): recent advances and future directions. [PDF]
Austelle CW+3 more
europepmc +1 more source
Developmental and epileptic encephalopathy in patients with epilepsy due to hypothalamic hamartomas
Abstract Objective What factors influence cognition and behavior in patients with epilepsy caused by hypothalamic hamartoma (HH)? Methods We conducted a retrospective study of 103 patients referred to the Epilepsy Center in Freiburg, Germany, over the past 24 years.
Kathrin Wagner+9 more
wiley +1 more source
Status Epilepticus Treated With Vagus Nerve Stimulation in an Adult With Cortical Dysplasia: A Case Report. [PDF]
Gómez-Oropeza I+7 more
europepmc +1 more source
Frequency‐specific alterations in brain connectivity induced by pulvinar stimulation
Abstract Objective Deep brain stimulation (DBS) is emerging as a promising therapy for patients with drug‐resistant epilepsy, particularly those who are either unsuitable for or unresponsive to resective surgery. The potential benefit of DBS in these patients may stem from its ability to reduce excessive brain functional connectivity (FC).
Emma Acerbo+8 more
wiley +1 more source