Seizure epilepsy

Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3. We report a case in which postnatal neuroimaging revealed severe lissencephaly. A 9-month-old boy presented with infantile spasms syndrome. Because of the refractory course of seizures and continued poor vitality, total corpus callosotomy was performed at 28 months of age. Intraoperative electroencephalogram (EEG) showed that the bilateral synchronous epileptiform discharges disappeared immediately after the disconnection...

Epilepsy is a common neurological disease characterized by the recurrent, paroxysmal, and unprovoked seizures. It has been shown that hyperuricemia enhances and associated with the development and progression of epilepsy through induction of inflammation and oxidative stress. In addition, uric acid is released within the brain and contributes in the development of neuronal hyperexcitability and epileptic seizure. Brain uric acid acts as damage associated molecular pattern (DAMP) activates the immune response and induce the development of neuroinflammation...

Various subjective and objective methods have been proposed to identify which interictal epileptiform discharge (IED)-related EEG-fMRI results are more likely to delineate seizure generating tissue in patients with drug-resistant focal epilepsy for the purposes of surgical planning. In this intracranial EEG-fMRI study, we evaluated the utility of these methods to localize clinically relevant regions pre-operatively and compared the extent of resection of these areas to post-operative outcome. Seventy patients admitted for intracranial video-EEG monitoring were recruited for a simultaneous intracranial EEG-fMRI study...

OBJECTIVE: To evaluate the efficacy and safety of herbal medicine and acupuncture combination for pediatric epilepsy treatment. METHODS: Databases were searched from their interception until October 2023 to identify randomized controlled trials focusing on the therapeutic efficacy of herbal medicine-acupuncture combination (intervention group) for pediatric epilepsy. The primary outcome was the risk of treatment failure, whereas the secondary outcomes included the risk of post-treatment electroencephalogram (EEG) abnormalities and adverse events...

Intracranial electroencephalographic (IEEG) recording, using subdural electrodes (SDEs) and stereoelectroencephalography (SEEG), plays a pivotal role in localizing the epileptogenic zone (EZ). SDEs, employed for superficial cortical seizure foci localization, provide information on two-dimensional seizure onset and propagation. In contrast, SEEG, with its three-dimensional sampling, allows exploration of deep brain structures, sulcal folds, and bihemispheric networks. SEEG offers the advantages of fewer complications, better tolerability, and coverage of sulci...

This preface introduces the Journal of Neurochemistry Special Issue on Advances in Epilepsy Research. Epilepsy is a devastating disease characterized by recurrent seizures. Despite the addition of numerous therapeutics over the last few decades epilepsy patients resistant to standard of care treatments remains stubbornly high. This highlights a clear unmet clinical need and the importance of new research into this disease. One major advance over the last two decades has been the recognition that genetic factors play a significant role in the underlying pathogenesis of epilepsy...

PURPOSE: To evaluate the impact of depressive symptoms on the subjective perception of quality of life in patients with drug-resistant epilepsy (DRE) after surgical treatment for seizures.  Methods: A case-control study with DRE patients who received surgical treatment (n=19) and matched non-operated patients (n=23). We assessed the quality of life using the Subjective Handicap of Epilepsy (SHE) scale, alongside measuring depressive symptoms using the Beck Depression Inventory (BDI)...

Artificial intelligence (AI) is rapidly transforming health care, and its applications in epilepsy have increased exponentially over the past decade. Integration of AI into epilepsy management promises to revolutionize the diagnosis and treatment of this complex disorder. However, translation of AI into neurology clinical practice has not yet been successful, emphasizing the need to consider progress to date and assess challenges and limitations of AI. In this Review, we provide an overview of AI applications that have been developed in epilepsy using a variety of data modalities: neuroimaging, electroencephalography, electronic health records, medical devices and multimodal data integration...

Scalp video-electroencephalography (video-EEG) monitoring should be analyzed thoroughly to preoperatively evaluate stereoelectroencephalography (SEEG). Formulating the working hypotheses for the epileptogenic zone (EZ) considering "anatomo-electroclinical correlations" is the most crucial step, which determines the placement of SEEG electrodes. If these hypotheses are insufficient, precise EZ identification may not be achieved during SEEG recording.In ictal semiology analysis, temporal and spatial patterns with reference to ictal EEG changes are emphasized...

A late post-traumatic seizure (LPTS), a consequence of traumatic brain injury (TBI), can potentially evolve into a lifelong condition known as post-traumatic epilepsy (PTE). Presently, the mechanism that triggers epileptogenesis in TBI patients remains elusive, inspiring the epilepsy community to devise ways to predict which TBI patients will develop PTE and to identify potential biomarkers. In response to this need, our study collected comprehensive, longitudinal multimodal data from 48 TBI patients across multiple participating institutions...

OBJECTIVE: To determine the efficacy and safety of perampanel (PER) as an adjunctive therapy in children aged 4-12 years with epilepsy. METHODS: We performed a non-randomized, open-label, placebo-uncontrolled, real-world self-controlled study that included 216 young children (aged 4-12 years) with epilepsy who received PER as adjunctive therapy at the children's hospital affiliated with Chongqing Medical University from July 4, 2020, to September 20, 2023...

PURPOSE: To assess preferences and outcome expectations for vagus nerve stimulation (VNS) and corpus callosotomy (CC) surgeries in the treatment of atonic seizure in Lennox-Gastaut syndrome (LGS). METHODS: A total of 260 surveys were collected from patients are caregivers of LGS patients via Research Electronic Data Capture (REDCap). RESULTS: Respondents reported an average acceptable atonic seizure reduction rate of 55.9% following VNS and 74...

We use a multiscale symbolic approach to study the complex dynamics of temporal lobe refractory epilepsy employing high-resolution intracranial electroencephalogram (iEEG). We consider the basal and preictal phases and meticulously analyze the dynamics across frequency bands, focusing on high-frequency oscillations up to 240 Hz. Our results reveal significant periodicities and critical time scales within neural dynamics across frequency bands. By bandpass filtering neural signals into delta, theta, alpha, beta, gamma, and ripple high-frequency bands (HFO), each associated with specific neural processes, we examine the distinct nonlinear dynamics...

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder known for its intricate clinical manifestations, spanning a spectrum of symptoms, including neuropsychiatric SLE (NPSLE) and lupus nephritis (LN). This condition predominantly affects young women of childbearing age, presenting a diverse array of symptoms that pose challenges in both diagnosis and treatment. Diagnosing central nervous system (CNS) involvement in SLE remains notably difficult despite being rooted in an autoimmune inflammatory response driven by cytokine surges...

LMTK3 is a brain-specific transmembrane serine/threonine protein kinase that acts as a scaffold for protein phosphatase-1 (PP1). Although LMKT3 has been identified as a risk factor for autism and epilepsy, its physiological significance is unknown. Here, we demonstrate that LMTK3 copurifies and binds to KCC2, a neuron-specific K+ /Cl- transporter. KCC2 activity is essential for Cl- -mediated hyperpolarizing GABAA R receptor currents, the unitary events that underpin fast synaptic inhibition. LMTK3 acts to promote the association of KCC2 with PP1 to promote the dephosphorylation of S940 within its C-terminal cytoplasmic domain, a process the diminishes KCC2 activity...

BACKGROUND: In 1978, Charlotte Dravet first described a form of epilepsy termed Dravet syndrome (DS). It is a form of genetic epilepsy with early-onset, intractable epilepsy episodes, and neurodevelopmental delay. In children, DS can lead to refractory seizures that are resistant to standard therapy. Recently, perampanel (PER) was approved as an antiepileptic drug for patients as young as 4 years old. METHODS: The medical records were retrospectively reviewed and patients with DS who used PER were included in this study...

BACKGROUND AND OBJECTIVES: Pathogenic variants in GRIN2A are associated with a spectrum of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders occur frequently but vary widely in severity, both between individuals and across the life span. The link between this phenotypic spectrum and brain characteristics is unknown. Specifically, altered brain networks at the root of speech and language deficits remain to be identified. Patients with pathogenic variants in GRIN2A offer an opportunity to interrogate the impact of glutamate receptor dysfunction on brain development...

BACKGROUND: This study aimed to obtain insights from epilepsy specialists on the use of Patient-Reported Outcome (PRO) measures and how they can affect the management of people with epilepsy and healthcare resource utilization. METHODS: The heads of two referral units for people with epilepsy at one tertiary care hospital were invited to respond to a structured survey. RESULTS: Paper-based questionnaires and face-to-face interviews were the main modalities used to measure the quality of life of people with epilepsy...

GABAergic interneurons play a critical role in maintaining neural circuit balance, excitation-inhibition regulation, and cognitive function modulation. In tuberous sclerosis complex (TSC), GABAergic neuron dysfunction contributes to disrupted network activity and associated neurological symptoms, assumingly in a cell type-specific manner. This GABAergic centric study focuses on identifying specific interneuron subpopulations within TSC, emphasizing the unique characteristics of medial ganglionic eminence (MGE)- and caudal ganglionic eminence (CGE)-derived interneurons...

PURPOSE: The epilepsy prevalence in Maridi County, South Sudan, in 2018 was 43.8 (95% CI: 40.9-47.0) per 1000 persons; 85.2% of the identified persons with epilepsy (PWE) met the criteria of onchocerciasis-associated epilepsy. To address this health problem, an epilepsy clinic was established at Maridi County Hospital in 2020. In August 2023, the impact of the clinic on the lives of PWE and their families was evaluated. METHODS: At the Maridi epilepsy clinic, data routinely collected by primary healthcare workers as part of patient care was reviewed...