Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.

Large cohort studies and variant-specific electrophysiology have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype correlations, prediction of pharmacosensitivity to sodium channel blockers, and long-term prognostication for clinicians and families. One of the most common clinical presentations of SCN2A pathological variants is benign familial neonatal-infantile seizures (BFNIS), which are characterized by seizure onset between the first day of life and 23 months of age and typically resolve, either spontaneously or with the aid of sodium channel blockers, within the first 2 years of life. In 2004, Berkovic et al. reported the case of a young boy affected by SCN2A-related BFNIS whose mother, who carried the same pathological variant, had also presented with BFNIS in infancy. Our case report focuses on the aforementioned woman who, more than 40 years later, presented two additional seizures, therefore opening the possibility of a role for SCN2A-related seizures in adulthood.

Clinical outcomes in transient epileptic amnesia: A 10-year follow-up cohort study of 47 cases.

OBJECTIVE: Transient epileptic amnesia (TEA) is a form of adult-onset epilepsy where presenting features are well described, but little is known regarding prognosis. This study aimed to elucidate the long-term prognosis of TEA regarding seizure control, memory, medical comorbidities, and life expectancy. METHODS: Up-to-date clinical information was collected for 47 people diagnosed with TEA who had joined the The Impairment of Memory in Epilepsy (TIME) study 10 years earlier. At entry to the study, information about comorbid conditions was systematically collected. Details regarding subsequent diagnoses, seizure activity, changes to treatment, or reports of cognitive impairment were obtained through the family doctor. The variables of interest were compared with UK population data. RESULTS: Mortality in the cohort was 21 of 47 (45%), with an average age at death of 82.5 years. Seizures remained well controlled for the majority but medications required adjustments in dose and type for some (28%). A small number (three cases) remained seizure-free without medication. History of cardiovascular disorders was frequent (78.7%), typically involving hypertension (55.3%). Autoimmune disorders (25.5%), cancer (23.4%), and depression (21.3%) were also commonly reported. Although persisting memory problems were often noted, dementia was diagnosed in seven cases (14.9%). Life expectancy and comorbidities in TEA did not differ from available population norms. SIGNIFICANCE: Results suggest that life expectancy is not reduced in TEA. Although TEA does not appear to be a self-limiting form of epilepsy, seizures are typically well controlled via medication. Because adjustments to medication may be required, even after long periods of stability, ongoing medical monitoring is recommended. Comorbid vascular disorders are frequent but appear similar to general population estimates. Monitoring mood may be important, given that people with chronic conditions are often vulnerable to depression. Because of persisting memory difficulties, the development of effective memory interventions for people with TEA is warranted.

Analysis of autoantibody spectrum and human herpesvirus 6 in adult patients with 'early' versus 'late' diagnosis of 'possible limbic encephalitis'.

New onset temporal seizures are increasingly encountered in adult patients. Many of those fulfill diagnostic criteria for possible or definite limbic encephalitis (LE). LE is associated with autoantibodies (autoABs) against neuronal surface structures ('neuronal' autoABs), 'onconeuronal' or GAD65. AutoABs can emerge in a paraneoplastic setting. However, by far not all patients with possible/definite LE have an oncological history. AutoABs have also found to arise in the context of viral encephalitis. Rare associations between autoAB-positive LE and human herpes virus 6 (HHV-6) infection have been as well reported. Our present analysis was dedicated to learn about potentially different autoAB spectra and HHV-6 detection rates in adult-onset temporal seizure patients with possible LE and largely different time spans between first seizure events and referral to a tertiary epileptological center due to pharmacoresistent seizures. We scrutinized serum/CSF samples obtained from adults with 'early diagnosis' of possible LE (≤ 30 months after first seizure event; n = 94) versus a patient group with 'late diagnosis' of possible LE (≥ 97 months; n = 45) for the presence of autoABs and HHV-6 DNA. AutoABs were detected in CSF and/or serum samples (n = 20) in 21.3 % of the early diagnosis patients with the highest abundance of anti-LGI1 (n = 8), significantly more frequent than in the late diagnosis group (autoAB positive: n = 4 (8.9 %); *p < 0.05, Fisher's Exact Test). Quantitative PCR revealed viral HHV-6 DNA in only one serum sample of the early diagnosis cohort but no evidence in corresponding CSF samples or in any sample of the late diagnosis group. The present data demonstrate a higher incidence of distinct autoABs in adults with early diagnosis of possible LE. The distinct spectra of autoABs have to be taken into account in the differential diagnosis of possible LE patients with short versus more sustained duration of temporal seizure activity.

Validation of the integrative model of adjustment to chronic conditions: Applicability to adult-onset epilepsy.

Adapting to life with adult-onset epilepsy is a challenge and there is a need for better interventions to support people, who have difficulty with psychosocial adjustment to the condition. The integrative model of adjustment to chronic conditions was developed for type 2 diabetes. This study aimed to demonstrate the applicability of the model to adult-onset epilepsy and thus make an original contribution to the development of relevant interventions. Qualitative data from a previous phenomenological study on the experience of adult-onset epilepsy were mapped onto the integrative model of adjustment to chronic conditions using framework analysis. Ten of the original 39 datasets were selected. All 10 datasets were from females diagnosed with epilepsy within 5 years before participation in the original study. The results demonstrated applicability of the integrative model of adjustment to chronic conditions after minor revisions to the model. These findings support further development of the integrative model of adjustment to chronic conditions for use as a clinical intervention for people with adult-onset epilepsy.