Abstract:
OBJECTIVE:Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to investigate a cohort of adult patients with epilepsy, to determinate the diagnostic yield and explore the gain of personalized treatment approaches in adult patients. METHODS:Two hundred patients (age span = 18-80 years) referred for diagnostic gene panel testing at the Danish Epilepsy Center were included. The vast majority (91%) suffered from comorbid intellectual disability. The medical records of genetically diagnosed patients were mined for data on epilepsy syndrome, cognition, treatment changes, and seizure outcome following the genetic diagnosis. RESULTS:We found a genetic diagnosis in 46 of 200 (23%) patients. SCN1A, KCNT1, and STXBP1 accounted for the greatest number of positive findings (48%). More rare genetic findings included SLC2A1, ATP6A1V, HNRNPU, MEF2C, and IRF2BPL. Gene-specific treatment changes were initiated in 11 of 46 (17%) patients (one with SLC2A1, 10 with SCN1A) following the genetic diagnosis. Ten patients improved, with seizure reduction and/or increased alertness and general well-being. SIGNIFICANCE:With this study, we show that routine diagnostic testing is highly relevant in adults with epilepsy. The diagnostic yield is similar to previously reported pediatric cohorts, and the genetic findings can be useful for therapeutic decision-making, which may lead to better seizure control, ultimately improving quality of life.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Johannesen KM,Nikanorova N,Marjanovic D,Pavbro A,Larsen LHG,Rubboli G,Møller RSdoi
10.1111/epi.16533subject
Has Abstractpub_date
2020-06-01 00:00:00pages
1234-1239issue
6eissn
0013-9580issn
1528-1167journal_volume
61pub_type
杂志文章相关文献
EPILEPSIA文献大全abstract:PURPOSE:We determined the prevalence of oral disorders and the dental treatment needs of outpatients with epilepsy. METHODS:A questionnaire was administered to 56 consecutive patients (35 males, 21 females) presenting to an outpatient clinic. All patients underwent dental examinations. The clinical and diagnostic feat...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1998.tb01426.x
更新日期:1998-06-01 00:00:00
abstract:PURPOSE:We used a model of self-staining status epilepticus (SSSE), induced by brief intermittent stimulation of the perforant path in unanesthetized rats, to study the mechanism of initiation and of maintenance of SSSE and the role of neuropeptides in those processes. METHODS:The perforant path was stimulated intermi...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1046/j.1528-1157.43.s.5.1.x
更新日期:2002-01-01 00:00:00
abstract::The performance of a new enzyme multiplied immunoassay technique (EMIT) was compared with other current methods, namely gas-liquid chromatography and thin-layer chromatography, for the determination of phenytoin and phenobarbital in serum. Forty-three serum samples were sent as unknowns to the participating laboratori...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1977.tb04979.x
更新日期:1977-09-01 00:00:00
abstract:PURPOSE:To develop an epilepsy-specific comorbidity risk adjustment index for mortality outcomes research. METHODS:Data were extracted from five linked administrative databases in Calgary, Canada from April 1, 1996 to March 31, 2004. Epilepsy patients were defined using a validated ICD-9-CM- and ICD-10-CA-based case d...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2011.03292.x
更新日期:2011-12-01 00:00:00
abstract:PURPOSE:This study was designed to quantify the relation between expressions of NMDA receptor (NMDAR) subunits (1 and 2A/B) and the epileptogenicity in human focal cortical dysplasia. METHODS:Immunoblotting and immunoprecipitation were used to quantify these receptor subunits in tissue resected from EEG-verified epile...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1999.tb01584.x
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVE:Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1-related epilepsy and explored genotype-phenotype correlations associated with frequently encountered variants. METHODS:A cross-sectional analysis of children harboring pathogenic or likely pathogenic KCN...
journal_title:Epilepsia
pub_type: 杂志文章,多中心研究
doi:10.1111/epi.16480
更新日期:2020-04-01 00:00:00
abstract:PURPOSE:This study was designed to measure the brain penetration of phenytoin (PHT) after intravenous (i.v.) administration of either standard PHT or fosphenytoin (FPHT), a PHT prodrug. The study was formulated to answer the question whether the time required for FPHT to be converted to PHT in the bloodstream would del...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1999.tb02068.x
更新日期:1999-02-01 00:00:00
abstract::Epilepsy can be a devastating disorder. In addition to debilitating seizures, epilepsy can cause cognitive and emotional problems with reduced quality of life. Therefore, the major aim is to prevent the disorder in the first place: identify, detect, and reverse the processes responsible for its onset, and monitor and ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.13778
更新日期:2017-07-01 00:00:00
abstract:OBJECTIVE:To identify features of ablations and trajectories that correlate with optimal seizure control and minimize the risk of neurocognitive deficits in patients undergoing laser interstitial thermal therapy (LiTT) for mesiotemporal epilepsy (mTLE). METHODS:Clinical and radiographic data were reviewed from a prosp...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.13715
更新日期:2017-05-01 00:00:00
abstract::As new antiepileptic drugs (AEDs) become available, physicians will define their appropriate use in particular patient populations. For women, the issues include gender-specific efficacy and tolerability, including the impact of the AED on reproductive health. Women with epilepsy who are treated with established AEDs ...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/j.1528-1157.1996.tb06037.x
更新日期:1996-01-01 00:00:00
abstract:PURPOSE:Substantia nigra (SN) and locus coeruleus (LC) neurons are implicated in the propagation and suppression of amygdaloid seizures. Both structures are activated concomitant with amygdaloid seizure discharges. Their mechanisms of activation, however, remain to be elucidated. SN firing is not associated with the in...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1998.tb01323.x
更新日期:1998-12-01 00:00:00
abstract:PURPOSE:To evaluate safety and tolerability of ketogenic diet (KGD) and valproate (VPA) cotherapy in the treatment of intractable seizures. METHODS:The patient records of children who underwent KGD initiation at the Massachusetts General Hospital for Children from February 2002 to September 2004 were retrospectively a...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2005.22705.x
更新日期:2005-09-01 00:00:00
abstract::Pinealectomy of the Mongolian gerbil leads to seizure activity. The pineal gland is a major source of malatonin (5-methoxy-N-acetyltryptamine) which may possess a modulatory influence upon neural activity. Melatonin administered in the form of subcutaneous beeswax implants was given to gerbils four days prior to pinea...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1980.tb04056.x
更新日期:1980-04-01 00:00:00
abstract:PURPOSE:Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive myoclonus epilepsy (PME) with severe renal dysfunction. We describe the clinical and neurophysiologic features of PME associated with SCARB2 mutations without renal impairment. METHODS:...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2011.03307.x
更新日期:2011-12-01 00:00:00
abstract::We report 10 seizure-related thermal injuries severe enough to require hospitalization in patients with epilepsy. Eight of the ten incidents were with patients who had had seizures with impaired consciousness two or more times a month. This suggests that seizure frequency is a risk factor and implies the importance of...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1992.tb02290.x
更新日期:1992-01-01 00:00:00
abstract::The pharmacokinetics of phenylethylmalonamide (PEMA), a major metabolite of primidone, were investigated following administration of single oral doses (400 mg) to six normal subjects and six patients receiving chronic treatment with antiepileptic drugs. Peak serum PEMA levels were usually attained with 2-4 h after int...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1982.tb06196.x
更新日期:1982-06-01 00:00:00
abstract::People with epilepsy (PWEs) are often advised against participating in sports and exercise, mostly because of fear, overprotection, and ignorance about the specific benefits and risks associated with such activities. Available evidence suggests that physical exercise and active participation in sports may favorably af...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.13261
更新日期:2016-01-01 00:00:00
abstract::Clobazam (CLB), a 1,5-benzodiazepine, is a remarkably effective add-on drug for individual patients with refractory partial epilepsy. CLB has an excellent safety record. As with all benzodiazepines used for treating epilepsy, sedation and withdrawal effects, together with the development of tolerance, limit its useful...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/j.1528-1157.1994.tb05979.x
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Alpha-[11C]methyl-L-tryptophan (alpha-MTrp) positron emission tomography (PET) is a promising tool in the localization of the epileptogenic area in selected group of focal epilepsy patients. Electrophysiological evidence suggests the involvement of the neocortex in periventricular nodular heterotopia (PVNH)....
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2008.01575.x
更新日期:2008-05-01 00:00:00
abstract::Vagus nerve stimulation (VNS) has demonstrated a significant anticonvulsant effect in preclinical studies, in pilot studies in humans, and in the acute phase of a multicenter, double-blinded, randomized study. After completion of a 14-week, blinded, randomized study, with 31 receiving high (therapeutic) VNS and 36 rec...
journal_title:Epilepsia
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1528-1157.1994.tb02484.x
更新日期:1994-05-01 00:00:00
abstract::Nicotinic acetylcholine receptor genes are involved mainly in nocturnal frontal epilepsy. Despite extensive studies, to date, the α2 subunit did not show a strong association with this peculiar epileptic phenotype. We report CHRNA2 missense mutation in a family with benign familial infantile seizures (BFIS). TrueSeq C...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.12967
更新日期:2015-05-01 00:00:00
abstract:PURPOSE:A questionnaire survey was conducted in Japan to investigate the causes and prevalence of death related to Dravet syndrome. METHODS:A questionnaire was delivered to 246 hospitals at which physicians were treating childhood epilepsy to gain information about the total number of patients with Dravet syndrome and...
journal_title:Epilepsia
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1528-1167.2011.03053.x
更新日期:2011-06-01 00:00:00
abstract::The efficacy and the potential risk of inducing convulsive or nonconvulsive status epilepticus with the combination of valproate (VPA) and clonazepam (CZP), with or without other anticonvulsant drugs, in 55 patients with intractable epilepsy was evaluated. The patients were treated with VPA and CZP concomitantly for f...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1985.tb05394.x
更新日期:1985-03-01 00:00:00
abstract::The advent of social networking via the Internet and the commercial availability of tests for SCN1A mutations permitted the rapid development and growth of parent-led associations that provide advocacy and support, as well as promote education and research regarding Dravet syndrome (DS) in the last 10 years. The Inter...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2011.03012.x
更新日期:2011-04-01 00:00:00
abstract::Epileptogenic networks are defined by the brain regions involved in the production and propagation of epileptic activities. In this review we describe the historical, methodologic, and conceptual bases of this model in the analysis of electrophysiologic intracerebral recordings. In the context of epilepsy surgery, the...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/epi.13791
更新日期:2017-07-01 00:00:00
abstract:BACKGROUND:The incidence of status epilepticus (SE) in Asian children, including Japanese, has not been reported. METHODS:In 2003, we performed an epidemiological study of SE on Japanese children (31 days or older to <15 years of age) in Okayama City by ascertaining all lifetime first episodes of SE. RESULTS:Thirty-s...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2007.01106.x
更新日期:2007-06-01 00:00:00
abstract::The course and outcome of epilepsy following central nervous system (CNS) infections has been poorly characterized. Likewise, the impact of antimicrobial treatment as well as other preventative and therapeutic interventions on the development of epilepsy following neurological infectious disorders has been insufficien...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2008.01755.x
更新日期:2008-08-01 00:00:00
abstract::West syndrome consists of infantile spasms, hypsarrhythmia, and developmental arrest. Most patients remain mentally retarded and many develop Lennox-Gastaut syndrome. Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome. ST3GAL3 encodes a sialylt...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.12050
更新日期:2013-02-01 00:00:00
abstract:PURPOSE:Ictal vomiting represents a rare clinical manifestation during seizures originating from the temporal lobes of the nondominant hemisphere. The precise anatomic structures responsible for generation of ictal vomiting remain to be clarified. Ictal single photon emission computed tomography (SPECT), which allows o...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1999.tb00823.x
更新日期:1999-08-01 00:00:00
abstract::Ketogenic diets (KDs) are designed to create the metabolic conditions of fasting, which was among the earliest therapies discovered for epilepsy. The major measures used to evaluate dietary effectiveness have been the levels of urinary ketone bodies and the successful reduction of seizure activity. Modifications of th...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/j.1528-1167.2008.01837.x
更新日期:2008-11-01 00:00:00