Abstract:
:Recognition of the role of genetics in the epilepsies has increased dramatically, impacting on clinical practice across many epilepsy syndromes. There is limited research investigating the impact of gene identification on individuals and families with epilepsy. While research has focused on the impact of delivering genetic information to families at the time of diagnosis in genetic diseases more broadly, little is known about how genetic results in epileptic diseases influences people's lives many years after it has been conveyed. This study used qualitative methods to explore the experience of receiving a genetic result in people with familial epilepsy. Interviews were conducted with individuals with familial epilepsies in whom the underlying genetic mutation had been identified. Recorded interviews underwent thematic analysis. 20 individuals from three families with different epilepsy syndromes and causative genes were interviewed. Multiple generations within families were studied. The mean time from receiving the genetic result prior to interview was 10.9 years (range 5-14 years). Three major themes were identified: 1) living with epilepsy: an individual's experience of the severity of epilepsy in their family influenced their view. 2) Clinical utility of the test: participants expressed varying reactions to receiving a genetic result. While for some it provided helpful information and relief, others were not surprised by the finding given the familial context. Some valued the use of genetic information for reproductive decision-making, particularly in the setting of severely affected family members. While altruistic reasons for participating in genetic research were discussed, participants emphasised the benefit of participation to them and their families. 3) 'Talking about the family genes': individuals reported poor communication between family members about their epilepsy and its genetic implications. The results provide important insights into the family experience of genetic epilepsies and communication within families. This information can be used to inform the development of guidelines for genetic result disclosure and genetic counselling for individuals and families with epilepsies.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Vears DF,Dunn KL,Wake SA,Scheffer IEdoi
10.1016/j.eplepsyres.2015.02.011subject
Has Abstractpub_date
2015-05-01 00:00:00pages
64-71eissn
0920-1211issn
1872-6844pii
S0920-1211(15)00030-3journal_volume
112pub_type
杂志文章abstract::Neuropeptide Y (NPY) and galanin are neuropeptides that are regulated by energy states and are also anticonvulsant. We tested the hypothesis that the anticonvulsant efficacy of the ketogenic diet (KD) is mediated by increased expression of NPY and galanin via alterations in food intake and energy metabolism. In situ h...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2004.08.002
更新日期:2004-11-01 00:00:00
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journal_title:Epilepsy research
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doi:10.1016/j.eplepsyres.2018.04.004
更新日期:2018-07-01 00:00:00
abstract::Mutations in GABRG2, which encodes the γ2 subunit of GABAA receptors, can cause both genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome. Most GABRG2 truncating mutations associated with Dravet syndrome result in premature termination codons (PTCs) and are stably translated into mutant proteins wit...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2013.12.005
更新日期:2014-03-01 00:00:00
abstract::The parameters of pentylenetetrazol (PTZ)-induced seizures have been evaluated at various time intervals after lipopolysaccharide (LPS; Escherichia coli O111:B4, 100 microg/kg, i.p.) administration in mice. A proconvulsant effect occurred 4h after LPS injection with decreased seizure latency and enhanced seizure inten...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2006.06.009
更新日期:2006-10-01 00:00:00
abstract::Daily treatment of mice with diazepam leads to the development of tolerance to the anxiolytic and anticonvulsant effect of the benzodiazepine, while daily treatment with the proconvulsant benzodiazepine receptor inverse agonist FG 7142 produces sensitization to its effects in that seizures develop (chemical kindling)....
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(88)90016-2
更新日期:1988-07-01 00:00:00
abstract::The ketogenic diet has been used to treat intractable epilepsy for many years, yet the mechanism(s) underlying its effectiveness have not been completely elucidated. However, emerging evidence indicates that the ketogenic diet may correct or otherwise alter a 'dystopic' gut microbiota that exhibits altered fecal micro...
journal_title:Epilepsy research
pub_type: 杂志文章,评审
doi:10.1016/j.eplepsyres.2020.106409
更新日期:2020-10-01 00:00:00
abstract:STUDY OBJECTIVE:Non-convulsive seizures/status epilepticus occur in approximately 20% of comatose, non-cardiac arrest intensive care unit (ICU) patients, and are associated with increased mortality. The prevalence and clinical significance of seizures in comatose survivors of cardiac arrest undergoing therapeutic hypot...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2013.06.018
更新日期:2013-10-01 00:00:00
abstract::The role of N-methyl-D-aspartate (NMDA) in the development and expression of kindled seizures was assessed using a crossover design. Rats were stimulated once daily in the perforant path for 10 consecutive days 30 min following daily administration of saline or the NMDA antagonist MK-801 (1.0 mg/kg) (phase I). Five to...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(94)90014-0
更新日期:1994-02-01 00:00:00
abstract:RATIONALE:Measurement of local cerebral blood flow (LCBF) is routinely used to locate the areas involved in the generation and spread of seizures in epileptic patients. Since the spatial distribution and extent of ictal LCBF depends on the epileptogenic network, but also on the timing of injection of tracer, we used a ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2006.01.008
更新日期:2006-05-01 00:00:00
abstract:OBJECTIVE:To clarify the clinical and neurophysiological profiles of fronto-parietal opercular epilepsy in which epileptic spikes are detected with magnetoencephalography (MEG) but not with scalp electroencephalography (EEG). METHODS:Four patients presented with epileptic spikes localized to the fronto-parietal opercu...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2012.05.003
更新日期:2012-11-01 00:00:00
abstract::The experimental antiepileptic drug, levetiracetam (UCB L059), a piracetam analogue has been investigated in photosensitive patients in the "photosensitivity model", an early phase II study. A total of 12 patients (10 females, 2 males) with a mean age of 21.5 years (range 13-38) were investigated during a 3 day period...
journal_title:Epilepsy research
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/s0920-1211(96)00031-9
更新日期:1996-11-01 00:00:00
abstract:RATIONALE:Epilepsy is the most common serious neurological condition in the world, and an important cause of mortality and disability in developing countries. Because epidemiological and clinical characteristics of epilepsy vary by region, it is important to know the peculiarities of epilepsy in this area of the Americ...
journal_title:Epilepsy research
pub_type: 杂志文章,评审
doi:10.1016/j.eplepsyres.2005.07.002
更新日期:2005-08-01 00:00:00
abstract::Recently, mutations of KCNQ2 or KCNQ3, members of the KCNQ-related K(+)-channel (KCNQ-channel) family, were identified as cause of benign familial neonatal convulsions (BFNC). However, the exact pathogenic mechanisms of age-dependent development and spontaneous remission of BFNC remain to be elucidated. To clarify the...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(02)00249-8
更新日期:2003-02-01 00:00:00
abstract::Although memory, language, and executive functions have been extensively studied in patients with mesial temporal lobe epilepsy (MTLE), few investigations of the decision-making abilities of these patients have been performed. We studied implicit decision-making (decisions under ambiguity) in right and left MTLE patie...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2010.10.009
更新日期:2011-01-01 00:00:00
abstract::Uncomplicated childhood-onset epilepsy is associated with increased brain amyloid load at late middle age, but its possible association with Alzheimer-type neurodegenerative processes is unclear. After 50-year follow-up, 42 childhood onset epilepsy subjects and 45 matched controls were investigated with [18F]fluorodeo...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2017.09.006
更新日期:2017-11-01 00:00:00
abstract::The efforts of the International League against Epilepsy (ILAE) to devise classifications of the epilepsies has greatly improved communication among epileptologists and influenced both basic and clinical research. Several classifications have been proposed since 1970; the most recent classification of epilepsy syndrom...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2005.11.014
更新日期:2006-08-01 00:00:00
abstract::To clarify the mechanisms of the antiepileptic activity of phenytoin (PHI), the effects of PHT on extracellular and total levels of monoamines (dopamine and serotonin), in rat striatum and hippocampus were studied. The plasma concentrations of PHT associated with therapeutic activity did not affect striatal and hippoc...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(97)00043-0
更新日期:1997-09-01 00:00:00
abstract:PURPOSE:The stringent dichotomy between focal and generalized epilepsies has become a contentious issue, since neuropathological studies as well as structural and functional imaging data hypothesized the existence of focal brain abnormalities in patients with well-documented idiopathic generalized epilepsy. The aim of ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(02)00084-0
更新日期:2002-08-01 00:00:00
abstract::Temporal lobe epilepsy (TLE) is the most common type of epilepsy with about one third of TLE patients being refractory to antiepileptic drugs. Knowledge about the mechanisms underlying seizure activity is fundamental to the discovery of new drug targets. Brain Na(+),K(+)-ATPase activity contributes to the maintenance ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2014.09.025
更新日期:2014-12-01 00:00:00
abstract:PURPOSE:Intracranial EEG in patients with lesional lateral temporal lobe epilepsy is rarely reported. Therefore, the number of patients with seizures arising independently from ipsilateral mesial structures or contralateral hemisphere has not been clarified. We analyzed the intracranial EEG of cases with localized lesi...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2007.10.009
更新日期:2008-01-01 00:00:00
abstract:PURPOSE:We retrospectively analyzed the seizure characteristics, EEG pattern, treatment, and outcome in a series of patients with self-limited epilepsy with centrotemporal spikes (SLECTS) who presented with unusual clinical manifestations. METHOD:A retrospective, descriptive, multicenter study was conducted evaluating...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2020.106507
更新日期:2021-01-01 00:00:00
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journal_title:Epilepsy research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0920-1211(02)00014-1
更新日期:2002-04-01 00:00:00
abstract:INTRODUCTION:Proton magnetic resonance spectroscopy ((1)H MRS) has been proposed as a lateralizing method for the presurgical evaluation of patients with medically intractable temporal lobe epilepsy (TLE). Studies have shown correlations between temporal lobe (TL) NAA and seizure frequency, and TL NAA/Cr and the durati...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2004.06.010
更新日期:2004-12-01 00:00:00
abstract::Dichotic word listening asymmetries are thought to be useful in predicting side of temporal lobe dysfunction. However, little direct evidence exists to support this assumption in practice, especially in patients with subtle epileptogenic lesions. To determine if word listening ear asymmetries are valid predictors of s...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(94)90025-6
更新日期:1994-10-01 00:00:00
abstract::To assess the efficacy of CM40907--a new antiepileptic drug--in suppressing inter-ictal spikes, 6 patients with severe intractable epilepsy and frequent spikes in their inter-ictal EEGs were entered in a double-blind placebo-controlled trial. The results show that CM40907 is efficacious in reducing spike counts in the...
journal_title:Epilepsy research
pub_type: 临床试验,杂志文章
doi:10.1016/0920-1211(90)90046-x
更新日期:1990-04-01 00:00:00
abstract:PURPOSE:To discern more static and lesion based from more dynamic epilepsy-driven features of depression and personality in focal symptomatic epilepsy, change in personality and mood was examined as a function of focus lateralization and seizure outcome after epilepsy surgery. METHODS:Self-reported personality and dep...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2008.07.011
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:Polyunsaturated fatty acids have been reported to increase seizure threshold and to reduce seizure duration and severity in rats. OBJECTIVE:The purpose of the present study was to test the anticonvulsant effects of an essential fatty acid mixture containing linoleic and alpha-linolenic acids at a 4:1 ratio ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2006.05.011
更新日期:2006-09-01 00:00:00
abstract::Zonisamide (Zonegran), a novel antiepileptic drug (AED) approved recently in Europe as adjunctive therapy for refractory partial seizures in adults, has been used extensively in Japan and the United States. A substantial body of clinical experience has accumulated over a 14-year period, allowing the properties and pha...
journal_title:Epilepsy research
pub_type: 杂志文章,评审
doi:10.1016/j.eplepsyres.2005.11.004
更新日期:2006-02-01 00:00:00
abstract::The present study examined whether the perceived behavioral problems of children with idiopathic epilepsy differed from those of healthy controls according to parent proxy-reports and which factors are associated with these problems. The parents of 106 children with idiopathic epilepsy and 305 healthy controls aged 6-...
journal_title:Epilepsy research
pub_type: 杂志文章,多中心研究
doi:10.1016/j.eplepsyres.2012.01.014
更新日期:2012-06-01 00:00:00
abstract:PURPOSE:Our objective was to propose a new on demand non-human primate model of mesial temporal lobe seizures suitable for pre-clinical innovative therapeutic research. METHODS:Five macaques were stereotaxically implanted unilaterally with a deep recording electrode in the hippocampus. For each experiment, penicillin ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2018.03.008
更新日期:2018-05-01 00:00:00