Functional seizures can be challenging to properly diagnose, often leading to delays in treatment. The etiology of functional seizures is multifactorial, with psychological factors identified in many, but not all cases. Misdiagnosis may occur due to clinical features mimicking other medical conditions. Once a correct diagnosis is reached, delivery of definitive, evidence-based treatment may be challenging due to limited availability of specialized resources. Research shows psychological education and cognitive behavioral therapy (CBT) have the greatest efficacy. However, individual differences, including acceptance of the diagnosis, therapeutic alliance, duration of symptoms, comorbidities, and access to care may influence outcomes. There is a critical need for reports that can help identify barriers to effective diagnosis and treatment. We present the diagnosis and treatment of a woman who visited the emergency room after an attack of predominant left-sided paralysis, speech dysfunction and altered awareness. Following multiple daily episodes and visits to multiple medical practitioners, testing led to a diagnosis of functional seizures. While the patient was recommended to undergo a variety of therapeutic interventions, including CBT, she ultimately terminated treatment. In a subsequent interview, the patient revealed her personal experience with perceived limitations of acute management strategies. We explore the complexities of diagnosing and treating individuals with functional seizures.
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http://dx.doi.org/10.1016/j.ebr.2021.100509 | DOI Listing |
Epilepsia
January 2025
Atalanta Therapeutics, Boston, Massachusetts, USA.
Objective: Gain-of-function variants in the KCNT1 gene, which encodes a sodium-activated potassium ion channel, drive severe early onset developmental epileptic encephalopathies including epilepsy of infancy with migrating focal seizures and sleep-related hypermotor epilepsy. No therapy provides more than sporadic or incremental improvement. Here, we report suppression of seizures in a genetic mouse model of KCNT1 epilepsy by reducing Kcnt1 transcript with divalent small interfering RNA (siRNA), an emerging variant of oligonucleotide technology developed for the central nervous system.
View Article and Find Full Text PDFJ Neural Eng
January 2025
Hangzhou Dianzi University, School of Automation, Hangzhou Dianzi University, Hangzhou 310052, China, Hangzhou, Zhejiang, 310018, CHINA.
The identification of spikes, as a typical characteristic wave of epilepsy, is crucial for diagnosing and locating the epileptogenic region. The traditional seizure detection methods lack spike features and have low sample richness. This paper proposes a seizure detection method with spike-based phase locking value (PLV) functional brain networks and multi-domain fused features.
View Article and Find Full Text PDFBehav Neurol
January 2025
Department of Pediatric Psychology, College of Medicine, Balcalı Hospital, Çukurova University, Adana, Turkey.
According to the International League Against Epilepsy (ILAE) 2015 classification, status epilepticus (SE) is a seizure that lasts longer than 5 min or a frequency of more than one seizure within 5 min, without returning to a normal level of consciousness between episodes. In this study, we aimed to evaluate the prognostic factors of SE and compare our patients with those of patients treated internationally with the modified status epilepticus severity score (mSTESS) to determine the reliability of this scoring system. The medical records of patients aged 1 month-17 years with SE who were treated at Çukurova University-Balcalı Training and Research Hospital between September 2018 and September 2021 and who were followed in the intensive care unit were included in the study.
View Article and Find Full Text PDFUnlabelled: SYNGAP1 is a key Ras-GAP protein enriched at excitatory synapses, with mutations causing intellectual disability and epilepsy in humans. Recent studies have revealed that in addition to its role as a negative regulator of G-protein signaling through its GAP enzymatic activity, SYNGAP1 plays an important structural role through its interaction with post-synaptic density proteins. Here, we reveal that intrinsic excitability deficits and seizure phenotypes in heterozygous Syngap1 knockout (KO) mice are differentially dependent on Syngap1 GAP activity.
View Article and Find Full Text PDFZebrafish models of genetic epilepsy benefit from the ability to assess disease-relevant knock-out alleles with numerous tools, including genetically encoded calcium indicators (GECIs) and hypopigmentation alleles to improve visualization. However, there may be unintended effects of these manipulations on the phenotypes under investigation. There is also debate regarding the use of stable loss-of-function (LoF) alleles in zebrafish, due to genetic compensation (GC).
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