Diagnostic implications of neuroimaging in epilepsy and other seizure disorders

Abstract

Epilepsy is the most common neurological disorder that affects ~1–2% of the global population, leading to presentation in the emergency room. The neuroimaging modalities have an important application in diagnosing new onset unprovoked seizures and epilepsy. This article discusses the various neuroimaging modalities for diagnosing seizures and epilepsy and addresses that the MRI is the investigation of choice, and urgent imaging is more commonly done by computed tomography in patients with new-onset seizures. The goal of the article was to diagnose seizures and epilepsy for early intervention to prevent complications or damage to the brain. MRI detects even small cortical epileptogenic lesions, whereas computed tomography is used in screening, diagnosis, evaluation, and monitoring of the prognosis of seizures in children. Magnetic resonance spectroscopy provides biochemical measurements of reduced N-acetyl aspartate and increased creatinine and choline in dysfunctioning epileptic zones. Volumetric MRI is very sensitive and specific in determining seizures originating in extratemporal and extrahippocampal sites. Even though diffusion tensor magnetic resonance imaging has a limited role, it is used in specific pediatric patient groups with temporal lobe epilepsy. Functional radionuclide imaging modalities (positron emission tomography and single-photon emission computerized tomography) are increasingly significant for the identification of the epileptic region. Furthermore, the authors recommend the use of artificial intelligence and further research on imaging modalities for early diagnosis of seizures and epilepsy.

Charting the Progress of Epilepsy Classification: Navigating a Shifting Landscape

“…For example, mutations in the SCN1A gene are associated with Dravet syndrome, while mutations in the KCNQ2 and KCNQ3 genes are linked to benign familial neonatal epilepsy (BFNE). These genetic insights have improved diagnostic accuracy and led to tailored treatments and prognosis predictions [27].…”

“…Fever-induced seizures and developmental regression characterize it. Mutations in the SCN1A gene, which encodes the sodium channel Nav1.1, are the primary genetic cause of Dravet syndrome [27].…”

“…Through genetic testing, specific gene mutations associated with epilepsy syndromes can be identified, leading to a more precise diagnosis. For example, SCN1A mutations are linked to Dravet syndrome [27], while mutations in KCNQ2 and KCNQ3 are associated with benign familial neonatal epilepsy [28]. Improved classification allows clinicians to select treatments that target the underlying cause or mechanism of epilepsy rather than relying solely on empirical AED trials.…”

“…Some AEDs may be more effective or better tolerated for specific epilepsy syndromes or genotypes [34]. For instance, in patients with SCN1A mutations and Dravet syndrome, sodium channel-blocking AEDs like stiripentol have shown better efficacy [27]. In contrast, patients with KCNQ2 mutations may benefit from potassium channel openers like ezogabine [28].…”

“…Specific genetic mutations can result in multiple epilepsy syndromes, thereby obscuring the distinctions between syndromes. For instance, mutations in the SCN1A locus can lead to Dravet syndrome, generalized epilepsy with febrile seizures plus (GEFS+), and other epilepsy phenotypes [27,28]. This genetic overlap makes classification more difficult.…”