Complex Partial Seizure

The Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon neurological disorder whose prevalence is not yet known. There have only been 21 adult manifestations of this rare brain disorder, out of around 100 cases previously documented. Diagnosis is challenging because of the complexity of radiological findings and clinical symptoms, which include ventricle dilation, hypertrophy of the cranial bones, increased pneumatization of the sinuses, and cerebral hemisphere atrophy. It can be inherited or acquired from infections, brain hemorrhage, and hypoxia during pregnancy...

Temporal lobe epilepsy (TLE) is the most common pharmaco-resistant epilepsy in adults. While primarily associated with mesiotemporal pathology, recent evidence suggests that brain alterations in TLE extend beyond the paralimbic epicenter and impact macroscale function and cognitive functions, particularly memory. Using connectome-wide manifold learning and generative models of effective connectivity, we examined functional topography and directional signal flow patterns between large-scale neural circuits in TLE at rest...

Hypothalamic hamartomas (HHs) are rare congenital lesions formed by heterotopic neuronal and glial cells attached to the mammillary bodies, tuber cinereum, and hypothalamus.They often present with an intractable epilepsy typically characterized by gelastic seizures but commonly associated with other types of refractory seizures. The clinical course is progressive in most of the cases, starting with gelastic seizures in infancy and deteriorating into complex seizure disorders that result in catastrophic epilepsy associated with cognitive decline and behavioral disturbances...

BACKGROUND AND OBJECTIVES: Perinatal hypoxic-ischemic brain injury is a leading cause of term-born cerebral palsy, the most common lifelong physical disability. Diagnosis is commonly made in the neonatal period by the combination of neonatal encephalopathy (NE) and typical neuroimaging findings. However, children without a history of neonatal encephalopathy may present later in childhood with motor disability and neuroimaging findings consistent with perinatal hypoxic-ischemic injury...

To decrease the interference in the process of epileptic feature extraction caused by insufficient detection capability in partial channels of focal epilepsy, this paper proposes a novel epilepsy detection method based on dynamic electroencephalogram (EEG) channel screening. This method not only extracts more effective epilepsy features but also finds common features among different epilepsy subjects, providing an effective approach and theoretical support for across-subject epilepsy detection in clinical scenarios...

Intracranial immature teratomas are rare, highly malignant, and fast-growing with a poor prognosis. We report the case of an infant with a large immature teratoma in the intracranial compartment. A two-month-old child presented to the emergency room with drowsiness and seizures. CT and cranial MRI showed hydrocephalus with a large expansive process in the right cerebral hemisphere extending to the infratentorial compartment, compressing the cerebellum and brainstem. It was then decided to partially resect the lesion...

Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11- a mutation found in KTS patients disabling ROGDI function. This Rogdi-/- mutant model recapitulates most KTS symptoms. Mutants displayed pentylenetetrazol-induced seizures, confirming epilepsy susceptibility. Spontaneous locomotion and circadian activity tests demonstrate Rogdi mutant hyperactivity mirroring patient spasticity...

Mesial temporal sclerosis (MTS) is one of the most common causes of treatment-resistant epilepsy, especially temporal lobe epilepsy (TLE). Various psychiatric symptoms are common with temporal lobe epilepsy. However, the least established symptoms were psychotic symptoms. Furthermore, treatment-resistant schizophrenia is a significant proportion of schizophrenia patients who have failed treatment with at least two different antipsychotics, resulting in poor outcomes and a significant negative impact on the patient's life...

Neuraminidase 1 (NEU1) is a lysosomal sialidase that cleaves terminal α-linked sialic acid residues from sialylglycans. NEU1 is biosynthesized in the rough endoplasmic reticulum (RER) lumen as an N-glycosylated protein to associate with its protective protein/cathepsin A (CTSA) and then form a lysosomal multienzyme complex (LMC) also containing β-galactosidase 1 (GLB1). Unlike other mammalian sialidases, including NEU2 to NEU4, NEU1 transport to lysosomes requires association of NEU1 with CTSA, binding of the CTSA carrying terminal mannose 6-phosphate (M6P)-type N-glycan with M6P receptor (M6PR), and intralysosomal NEU1 activation at acidic pH...

Background: Everolimus is an inhibitor of mammalian target of rapamycin complex 1. As mutations in TSC1 and TSC2 , which cause partial-onset seizures associated with TSC, were found in focal cortical dysplasia type Ⅱ (FCD Ⅱ) patients, a clinical trial has been performed to explore the efficacy and safety of everolimus in FCD patients. However, no dosage regimen was determined to treat FCD II. To recommend an optimal dose regimen for FCD patients, a population pharmacokinetic model of everolimus in FCD patients was developed...

Closed-circuit rebreather diving is becoming more common. Rebreathers are complicated, adding to the stress of diving. Also adding to this complexity in the presented case is diving at a high-altitude, cold-water reservoir in Colorado. One diver experienced an oxygen-induced seizure at depth. The other diver had a rapid ascent with loss of consciousness. In this case, two experienced divers recovered from a possible devastating dive. Fortunately, they both returned to their pre-dive baseline health. Dive plan- ning is important, but as in this case, dive execution is paramount...

To review the pharmacokinetics, efficacy, and adverse effects of vigabatrin (Sabril) and its role in managing refractory focal unaware seizures in adults. In the present investigation, a search of English-language literature from 1999 through 2023 was conducted using vigabatrin and Sabril as search terms to identify relevant studies and review articles. A 2000 double-blind, placebo-controlled multicenter study found that out of 90 adult patients, 48% of those treated with vigabatrin achieved a 50% or greater reduction in the frequency of complex partial seizures, compared to 26% of placebo-treated patients...

Biallelic variants in the Golgi SNAP receptor complex member 2 gene ( GOSR2 ) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2 -related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G>A and the novel c...

OBJECTIVE: As neuropsychologists continually work to establish clinical standards of practice for evaluation of linguistically and culturally diverse children with epilepsy (Berrios-Siervo et al., 2023), this case study supports efforts to document complex assessment procedures with an adolescent who recently immigrated from Mexico to the U.S. METHOD: A 16-year-old, right-handed, primarily Spanish-speaking, Hispanic male with intractable epilepsy (complex partial seizures) was referred for a presurgical neuropsychological evaluation...

OBJECTIVE: Patients with Temporal Lobe Epilepsy (TLE) and Alzheimer's Disease (ad) demonstrate increased β-amyloid and tau deposition, relative to patients with either TLE or ad. Presentation of ad may be atypical and more rapid in patients with both disorders. We present four serial neuropsychological evaluations (NPE) of a 68-year-old, right-handed woman with history of epilepsy (which became treatment refractory), neurosurgical resection, and incidental neuropathological findings of early-onset ad...

Corpus callosotomy (CC) is an effective surgical treatment for medically resistant generalized or multifocal epilepsy (MRE). The premise of CC extrapolates from the observation that the corpus callosum is the predominant commissural pathway that allows spread and synchroneity of epileptogenic activity between the hemispheres. Candidacy for CC is typically reserved for patients seeking palliative epilepsy treatment with the goal of reducing the frequency of drop attacks, although reduction of other seizure semiologies (absence, complex partial seizures, and tonic-clonic) has been observed...

BACKGROUND: It is generally recognized that genetic metabolic disorders can result in neurological symptoms such as seizures, developmental delay, and intellectual disability. Heterogeneous clinical presentations make the diagnosis challenging. CASE PRESENTATION: In this case report, we present a unique and complex genetic disorder observed in a female patient who exhibited three pathogenic gene variants in the KCNT1, ACADM , and CHD4 genes. The convergence of these variants resulted in a multifaceted clinical presentation characterized by severe seizures of combined focal and generalized onset, metabolic dysfunction, and neurodevelopmental abnormalities...

OBJECTIVE: Seizures can be a debilitating manifestation of underlying neoplastic intracranial pathology. Existing literature offers a paucity of scientific consensus regarding risk factors, seizure semiology, operative techniques, and tumor characteristics in pediatric patients with a concurrent diagnosis of primary intracranial neoplasm and seizures. To address the limited evidence in current literature, the authors systematically reviewed published literature on current clinical characteristics and management strategies for patients presenting concurrently with seizures and a newly diagnosed brain lesion, while aiming to synthesize a potential management protocol or set of recommendations for these patients...

Focal impaired awareness seizures (FIAS), previously known as complex partial seizures, refer to focal seizures that start in one hemisphere of the brain and are associated with an impairment in consciousness. FIAS of temporal lobe origin most often present with psychopathology, such as behavioral and affective symptoms. It has a bimodal age distribution peaking at the extremes of life. Geriatric presentations can often be subtle and go unnoticed asides from a few symptoms, such as confusion and memory lapses...

Inhibitory interneurons in the cortex are abundant and have diverse roles, classified as parvalbumin (PV), somatostatin (SOM), and vasoactive intestinal polypeptide (VIP) according to chemically defined categories. Currently, their involvement with seizures has been partially uncovered in physiological terms. Here, we propose a corticothalamic model containing heterogeneous interneurons to study the effects of various interneurons on absence seizure dynamics by means of optogenetic stimulation. First, the important role of feedforward inhibition caused by SRN→PV→PN projections on seizures is verified...