UBA5-epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes.

Protein ufymilation is a post-translational modification implicated in the regulation of several cellular processes. Biallelic variants in UBA5 causing a functional alteration of its protein product have been associated with early-onset epileptic encephalopathy 44 (EIEE44), a rare disease for which 28 patients have been described in the literature at present. We here report on the clinical and detailed EEG phenotype of a novel patient affected by EIEE44.

Preliminary Safety Study of a Single-dose Perampanel Drip Infusion in Brain Tumor Patients to Prevent Early Postoperative Seizures: The poSTOP Seizure-1 SF Study.

Early postoperative seizures, defined as occurring within 7 days after surgery, are a significant complication that occurs following neurosurgical procedures involving cerebral manipulation. As a result, short-term antiseizure medication is typically administered in Japan despite the lack of consensus regarding its prophylactic use. Perampanel hydrate, an α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist, was recently introduced in an intravenous formulation in Japan, providing new potential for early postoperative seizures prevention during the perioperative period.

A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.

Here we present a case of Dravet syndrome in which a novel heterozygous deletion involving the promoter region of the SCN1A gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This microdeletion is believed to reduce SCN1A transcription, leading to haploinsufficiency. This case highlights the importance of early genetic analysis, including that of promoter regions, before the diagnostic criteria are met for the induction of specific treatments.

Clinical and Genetic Functional Validation of a Novel Mutation Causing MEDNIK Syndrome.

MEDNIK syndrome is a rare copper metabolism disorder caused by variants. Herein, we report the clinical and genetic characteristics of MEDNIK syndrome in two siblings. The clinical treatment process for MEDNIK syndrome and over 4 years of follow-up data were analysed in two siblings.

Auditory Reaction Time in People With Epilepsy and Healthy Controls.

Objective: Simple reaction time (SRT) to acoustic stimuli is a typical parameter used in the assessment of driving ability in people with epilepsy (PWE). In clinical practice, auditory SRT is commonly compared during and outside of epileptiform discharges (ED). Yet, a subset of PWE also has slowed SRT outside their ED, possibly because of antiseizure medication (ASM) or disease-associated network alterations.

Incidence, mortality, and management of status epilepticus from 2012 to 2022: An 11-year nationwide study.

Objective: Recent data on status epilepticus (SE) incidence and mortality remain limited, despite the 2015 revision of its definition by the International League Against Epilepsy. The impact of the COVID-19 pandemic also remains unclear. We assessed trends in SE incidence, mortality, and management from 2012 to 2022 and examined the pandemic's impact.

HCN channels reveal conserved and divergent physiology in supragranular pyramidal neurons in primate species.

The physiological properties of human and rodent neurons differ, yet the extent to which these differences reflect human specializations is often unclear. Compared with their rodent counterparts, human supragranular pyramidal neurons possess enriched HCN-channel-dependent intrinsic membrane properties and a related sensitivity to synaptic inputs containing delta/theta band frequencies. We tested whether other primate species possess enriched HCN-channel dependent membrane properties.

Anteromesial Temporal Lobectomy for Medically Intractable Temporal Lobe Epilepsy: An Operative Study.

Anteromesial temporal lobectomy, including surgical resection of the mesial temporal structures, is an important surgical procedure for the treatment of medically refractory temporal lobe epilepsy. Given the widespread use of this technique in appropriately screened patients with intractable focal epilepsy (not to mention other non-epileptic neurosurgical conditions, including brain tumors and vascular lesions), it is important for the treating neurosurgeon to have a comprehensive understanding of the complex anatomy and surgical technique for performing a successful resection. Here, we describe the key steps and important technical pearls for a standard anteromesial temporal lobectomy procedure.

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

Ring chromosome 20 syndrome (r (20)) is a rare genetic disorder characterized by drug-resistant epilepsy, cognitive impairment, and behavioral changes, often manifesting with non-convulsive status epilepticus (NCSE). We report a unique case of a 38-year-old woman with r (20) and recurrent NCSE, demonstrating a novel and striking electro-clinical correlation. Continuous video-EEG monitoring revealed distinct, alternating electro-clinical phases, with NCSE manifesting as continuous spike-wave during sleep (CSWS)-like patterns.

Distinct manifestations of excitatory-inhibitory imbalance associated with amyloid-β and tau in patients with Alzheimer's disease.

A growing body of evidence shows that epileptic activity is frequently observed in patients with Alzheimer's disease (AD), implicating underlying excitatory-inhibitory imbalance. The distinction of whether the AD-epileptic phenotype represents a subset of patients or an underdiagnosed manifestation holds major therapeutic implications. Here, we quantified the excitatory-inhibitory imbalance in AD patients using magnetoencephalography and examined the relationships to AD pathophysiology-amyloid-beta and tau, and to epileptic activity.

Anatomo-Electro-Functional Investigations in Rolandic and Peri-Rolandic Epilepsies: A conceptual framework for Stereo-EEG.

Objective: To develop a hypothesis-driven framework for stereoelectroencephalography (SEEG) exploration in the Rolandic and Peri-Rolandic (RPR) regions and enhance understanding of epileptogenic networks and their functional implications.

Methods: We reviewed 102 consecutive SEEG cases (January 2020 - February 2024). Eight patients (median age: 38 years) with suspected epileptogenic zones (EZ) within the RPR regions were included.

Attitude of people with epilepsy in Serbia toward surgical treatment of epilepsy.

Objective: Approximately, one-third of patients with epilepsy (PWE) have drug-resistant epilepsy (DRE). This condition significantly impacts quality of life, leads to various negative socioeconomic consequences, and increases the risk of sudden unexpected death in epilepsy (SUDEP). Surgical treatment is considered the most effective option for patients with lesional DRE.

Efficacy of a radiofrequency thermocoagulation strategy targeting the propagation network in MRI-negative post-encephalitic insular epilepsy: a case report.

Insular epilepsy after encephalitis is often drug-resistant and MRI-negative, limiting resection due to eloquent cortex involvement. We describe a case in which radiofrequency thermocoagulation (RFTC) was applied to disconnect the propagation network (PN) identified by stereoelectroencephalography. In a woman with focal to bilateral tonic-clonic seizures, the epileptogenic network (EN) was in the left insula and temporal operculum, and the PN spread to the perirolandic area.

Paired blood and brain tissue methylation biomarkers in focal cortical dysplasia.

Focal Cortical Dysplasia (FCD) is a common cause of drug-resistant epilepsy. These abnormalities arise during embryonic development and are challenging to classify due to their complex nature. The most recent classification update of FCD incorporates genetic and epigenetic results with other clinical data for the management of epilepsy associated with these lesions.

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.

The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope and limitations of conventional cognitive and behavioral measurement strategies in 2-21-year-olds with Phelan-McDermid syndrome (PMS; N = 98), Tuberous Sclerosis Complex (TSC; N = 98), and PTEN Hamartoma Tumor syndrome (PHTS; N = 69).

Effectiveness and safety of perampanel by concomitant antiseizure medications: Insights from the real-world PERMIT Extension study.

The PERMIT Extension study is the largest pooled analysis of perampanel (PER) clinical practice data to date. A post-hoc analysis of PERMIT Extension assessed the effectiveness and tolerability of PER with different concomitant antiseizure medication (ASM) regimens. Effectiveness was assessed by evaluating responder and seizure freedom rates at the last observation for each participant ('last visit'), and tolerability was assessed by evaluating adverse events.

Deletion of SH2D5 alleviates epileptic seizures and NMDAR expression via autophagic degradation of STAT1.

Epilepsy is a common neurological disorder resulting from an imbalance between neuronal excitation and inhibition. Synapses play a pivotal role in the pathogenesis of epilepsy. Src-homology 2 (SH2) domain-containing protein 5 (SH2D5) is highly expressed in the brain and is implicated in the regulation of synaptic function.

What to Consider When Developing Multidomain Mobile Health Interventions for Lifestyle Management.

Mobile health (mHealth) interventions can transform health care delivery and improve public health. At the same time, the evidence on lifestyle interventions continues to grow. They show promising results in preventing and treating noncommunicable diseases and enhancing health-related quality of life.

Microglial activation is inhibited by selective anti-seizure medications.

Objective: To investigate the anti-inflammatory properties of anti-seizure medications (ASMs) administered to patients with drug-resistant epilepsy (DRE) and the role of sodium channels in microglial activation.

Material: Primary microglia monocultures from mice brains.

Treatment: Microglia were activated with 10 μg/mL lipopolysaccharide (LPS) or polyinosinic:polycytidylic acid (poly I:C) and pre- (45 min ASM then 2 h ASM plus stimulus) or post- (2 h stimulus then 24 h only ASM) treated with ASMs.

Modulation of epileptogenesis through transplantation of human mesenchymal stem cells with or without GDNF release.

Epilepsy is a central nervous system disorder causing uncontrollable seizures. One-third of patients do not respond to current medications, necessitating new treatments. This study targeted epileptogenesis, the process leading to chronic epilepsy, using human mesenchymal stem cells (MSCs) in a rodent model.

[Misdiagnosis and factors associated with drug resistance in idiopathic generalized epilepsy].

To investigate and analyze the profiles of misdiagnosis and risk factors for drug resistance in patients with idiopathic generalized epilepsy (IGE). The data of 188 patients with IGE treated at the Epilepsy Center of the Second Affiliated Hospital of Zhejiang University School of Medicine from January 2014 to December 2022, who met the latest diagnostic criteria of the International League Against Epilepsy (ILAE) were retrospectively collected. All the patients were followed up for over 12 months.