Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19.

Abstract:

:We report identical twins with supernumerary ring chromosome 19 mosaicism, who had severe refractory epilepsy at an early age. The epilepsy was dominated largely by severe life-threatening tonic seizures. Both twins died, likely as a consequence of their severe epilepsy. They displayed no dysmorphic features. Eight cases of ring chromosome 19 have been reported in the literature, all to our knowledge without epilepsy. The clinical picture of these twins emphasizes the importance of carrying out a karyotype study on patients with early-onset epilepsy even in the absence of dysmorphic features.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Shahwan A,Green AJ,Carey A,Stallings RL,O'Flaherty OC,King MD

doi

10.1111/j.0013-9580.2004.00304.x

subject

Has Abstract

pub_date

2004-08-01 00:00:00

pages

997-1000

issue

8

eissn

0013-9580

issn

1528-1167

pii

EPI00304

journal_volume

45

pub_type

杂志文章
  • Human focal seizures are characterized by populations of fixed duration and interval.

    abstract:OBJECTIVE:We report on a quantitative analysis of data from a study that acquired continuous long-term ambulatory human electroencephalography (EEG) data over extended periods. The objectives were to examine the seizure duration and interseizure interval (ISI), their relationship to each other, and the effect of these ...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.13291

    authors: Cook MJ,Karoly PJ,Freestone DR,Himes D,Leyde K,Berkovic S,O'Brien T,Grayden DB,Boston R

    更新日期:2016-03-01 00:00:00

  • Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome).

    abstract::We studied 36 drop seizures in 5 patients with myoclonic astatic epilepsy of early childhood (MAEE) with simultaneous split-screen video recording and polygraph. Sixteen were falling attacks and 20 were either less severe attacks exhibiting only deep head nodding or seizures equivalent to drop attacks in terms of icta...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1992.tb02185.x

    authors: Oguni H,Fukuyama Y,Imaizumi Y,Uehara T

    更新日期:1992-09-01 00:00:00

  • Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome.

    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

    authors: Sakauchi M,Oguni H,Kato I,Osawa M,Hirose S,Kaneko S,Takahashi Y,Takayama R,Fujiwara T

    更新日期:2011-06-01 00:00:00

  • Effect of systemic estrogen on seizure susceptibility in the immature animal.

    abstract::Estrogens have previously been reported to be proconvulsants in adult animals. This study evaluated the effects of acute, high-dose estrogen administration on rate of kindling in immature rats. No significant differences in rate of kindling between the estrogen-treated rats and controls were noted. This study, using t...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1986.tb03580.x

    authors: Schultz-Krohn WA,Thompson J,Holmes GL

    更新日期:1986-09-01 00:00:00

  • Impaired function of GABA(B) receptors in tissues from pharmacoresistant epilepsy patients.

    abstract:PURPOSE:Effects of pre- and postsynaptic γ-aminobutyric acid B (GABA(B)) receptor activation were characterized in human tissue from epilepsy surgery. METHODS:Slices of human cortical tissue were investigated in a submerged-type chamber with intracellular recordings in layers II/III. Parallel experiments were performe...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2009.02094.x

    authors: Teichgräber LA,Lehmann TN,Meencke HJ,Weiss T,Nitsch R,Deisz RA

    更新日期:2009-07-01 00:00:00

  • 7-nitroindazole differentially affects the anticonvulsant activity of antiepileptic drugs against amygdala-kindled seizures in rats.

    abstract:PURPOSE:The objective of this study was to evaluate the interaction of the preferential brain nitric oxide synthase (NOS) inhibitor, 7-nitroindazole (7-NI), with conventional antiepileptic drugs (AEDs) against amygdala-kindled seizures in rats. METHODS:Experiments were performed on fully kindled rats. Adverse effects ...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.2000.tb00316.x

    authors: Borowicz KK,Kleinrok Z,Czuczwar SJ

    更新日期:2000-09-01 00:00:00

  • Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy.

    abstract::This chapter covers the syndromes of benign epilepsy with centrotemporal spikes (BECTS), nonlesional focal epilepsy in otherwise normal children (NLFN), and the genetic generalized epilepsies. BECTS is an epilepsy syndrome that always enters terminal remission before the general age of a planned transition of adolesce...

    journal_title:Epilepsia

    pub_type: 杂志文章,评审

    doi:10.1111/epi.12706

    authors: Camfield CS,Berg A,Stephani U,Wirrell EC

    更新日期:2014-08-01 00:00:00

  • Epidemiology of status epilepticus in adults: A population-based study on incidence, causes, and outcomes.

    abstract:OBJECTIVE:In 2015, the International League Against Epilepsy (ILAE) proposed a new definition of status epilepticus (SE): 5 minutes of ongoing seizure activity to diagnose convulsive SE (CSE, ie, bilateral tonic-clonic SE) and 10 minutes for focal SE and absence SE, rather than the earlier criterion of 30 minutes. Base...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.14607

    authors: Leitinger M,Trinka E,Giovannini G,Zimmermann G,Florea C,Rohracher A,Kalss G,Neuray C,Kreidenhuber R,Höfler J,Kuchukhidze G,Granbichler C,Dobesberger J,Novak HF,Pilz G,Meletti S,Siebert U

    更新日期:2019-01-01 00:00:00

  • First evidence of altered microbiota and intestinal damage and their link to absence epilepsy in a genetic animal model, the WAG/Rij rat.

    abstract:OBJECTIVE:A large number of studies have highlighted the important role of the gut microbiota in the pathophysiology of neurological disorders, suggesting that its manipulation might serve as a treatment strategy. We hypothesized that the gut microbiota participates in absence seizure development and maintenance in the...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.16813

    authors: Citraro R,Lembo F,De Caro C,Tallarico M,Coretti L,Iannone LF,Leo A,Palumbo D,Cuomo M,Buommino E,Nesci V,Marascio N,Iannone M,Quirino A,Russo R,Calignano A,Constanti A,Russo E,De Sarro G

    更新日期:2021-01-11 00:00:00

  • Double-blind, placebo-controlled evaluation of cinromide in patients with the Lennox-Gastaut Syndrome. The Group for the Evaluation of Cinromide in the Lennox-Gastaut Syndrome.

    abstract::This study evaluated the effects of cinromide in patients with Lennox-Gastaut Syndrome. No difference between cinromide and placebo was shown in terms of seizure reduction or global evaluations. This study is important, however, because it represents an effort to overcome methodologic difficulties inherent in evaluati...

    journal_title:Epilepsia

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1528-1157.1989.tb05321.x

    authors:

    更新日期:1989-07-01 00:00:00

  • Long-lasting antiepileptic effects of levetiracetam against epileptic seizures in the spontaneously epileptic rat (SER): differentiation of levetiracetam from conventional antiepileptic drugs.

    abstract:PURPOSE:Some evidence suggests that levetiracetam (LEV) possesses antiepileptogenic characteristics. The purpose of this study was to investigate the time course of seizure protection by LEV compared with that of phenytoin (PHT), phenobarbital (PB), valproate (VPA), and carbamazepine (CBZ) in the spontaneously epilepti...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2005.29604.x

    authors: Ji-qun C,Ishihara K,Nagayama T,Serikawa T,Sasa M

    更新日期:2005-09-01 00:00:00

  • Antiepileptic drugs and vitamin D supplementation.

    abstract::The incidence of biochemical signs of vitamin D deficiency and the effects of vitamin D supplementation were investigated in 83 children and 95 adults on chronic antiepileptic therapy and 40 mentally retarded controls living under comparable conditions. Low 25-hydroxyvitamin D and serum calcium, and elevated immunorea...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1979.tb04771.x

    authors: Offermann G,Pinto V,Kruse R

    更新日期:1979-02-01 00:00:00

  • The topography and significance of extratemporal hypometabolism in refractory mesial temporal lobe epilepsy examined by FDG-PET.

    abstract:PURPOSE:This study aims to map the temporal and extratemporal 18-fluorodeoxyglucose positron emission tomography (FDG-PET)-defined hypometabolism in mesial temporal lobe epilepsy (MTLE). We hypothesize that quantitative analysis will reveal extensive extratemporal glucose hypometabolism (EH), that the EH is related to ...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2010.02552.x

    authors: Wong CH,Bleasel A,Wen L,Eberl S,Byth K,Fulham M,Somerville E,Mohamed A

    更新日期:2010-08-01 00:00:00

  • Estimating the incidence of first unprovoked seizure and newly diagnosed epilepsy in the low-income urban community of Northern Manhattan, New York City.

    abstract:PURPOSE:To estimate the incidence and mortality associated with first unprovoked seizure or newly diagnosed epilepsy in a low-income, predominantly Hispanic community in Northern Manhattan, New York City. METHODS:We performed a population-based study to determine the incidence of first unprovoked seizure or newly diag...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2008.01564.x

    authors: Benn EK,Hauser WA,Shih T,Leary L,Bagiella E,Dayan P,Green R,Andrews H,Thurman DJ,Hesdorffer DC

    更新日期:2008-08-01 00:00:00

  • Circling seizures in a case of juvenile myoclonic epilepsy.

    abstract::Circling seizures (CS) have been described in association with focal lesions as well as with generalized EEG discharges. We report 1 patient with juvenile myoclonic epilepsy (JME) who developed CS. There were no focal findings on clinical examination, EEG, or imaging studies. We propose that CS in this patient may rep...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1994.tb02436.x

    authors: Lancman ME,Asconapé JJ,Golimstok A

    更新日期:1994-03-01 00:00:00

  • Voxel-based magnetic resonance image postprocessing in epilepsy.

    abstract:OBJECTIVE:Although the general utility of voxel-based processing of structural magnetic resonance imaging (MRI) data for detecting occult lesions in focal epilepsy is established, many differences exist among studies, and it is unclear which processing method is preferable. The aim of this study was to compare the abil...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.13851

    authors: Martin P,Winston GP,Bartlett P,de Tisi J,Duncan JS,Focke NK

    更新日期:2017-09-01 00:00:00

  • Long-term safety and efficacy of lacosamide and controlled-release carbamazepine monotherapy in patients with newly diagnosed epilepsy.

    abstract:OBJECTIVE:A large-scale, double-blind trial (SP0993; NCT01243177) demonstrated that lacosamide was noninferior to controlled-release carbamazepine (carbamazepine-CR) in terms of efficacy, and well tolerated as first-line monotherapy in patients (≥16 years of age) with newly diagnosed epilepsy. We report primary safety ...

    journal_title:Epilepsia

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/epi.16381

    authors: Ben-Menachem E,Grebe HP,Terada K,Jensen L,Li T,De Backer M,Steiniger-Brach B,Gasalla T,Brock M,Biton V

    更新日期:2019-12-01 00:00:00

  • Confirmation of two magnetoencephalographic epileptic foci by invasive monitoring from subdural electrodes in an adolescent with right frontocentral epilepsy.

    abstract:PURPOSE:To report our evaluation of interictal two epileptic spike fields on magnetoencephalography (MEG) by using invasive intracranial monitoring in a patient without lesion on magnetic resonance imaging (MRI). METHODS:A 15-year-old left-handed boy with a 9-year history of refractory simple partial seizures, seconda...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1999.tb05563.x

    authors: Otsubo H,Sharma R,Elliott I,Holowka S,Rutka JT,Snead OC 3rd

    更新日期:1999-05-01 00:00:00

  • Epilepsy care: image of the future.

    abstract::A number of factors have contributed to improvements in the care of epilepsy during the past decade, including the International League Against Epilepsy classifications, therapeutic antiepileptic drug (AED) monitoring and the concept of monotherapy, new AEDs with novel mechanisms of action, and new insights into etiol...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1995.tb06012.x

    authors: Gram L

    更新日期:1995-01-01 00:00:00

  • Interobserver agreement of the old and the newly proposed ILAE epilepsy classification in children.

    abstract:PURPOSE:Accurate classification of epileptic seizures, epilepsies, and epilepsy syndromes is mandatory in both clinical practice and epilepsy research. In 2010, the International League Against Epilepsy (ILAE) proposed a new classification scheme. The aim of this study is to determine whether application of this new cl...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.12111

    authors: van Campen JS,Jansen FE,Brouwer OF,Nicolai J,Braun KP

    更新日期:2013-04-01 00:00:00

  • Is the cell death in mesial temporal sclerosis apoptotic?

    abstract:PURPOSE:Mesial temporal sclerosis (MTS) is characterized by neuronal loss in the hippocampus. Studies on experimental models and patients with intractable epilepsy suggest that apoptosis may be involved in neuronal death induced by recurrent seizures. METHODS:We searched evidence for apoptotic cell death in temporal l...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1046/j.1528-1157.2003.37402.x

    authors: Uysal H,Cevik IU,Soylemezoglu F,Elibol B,Ozdemir YG,Evrenkaya T,Saygi S,Dalkara T

    更新日期:2003-06-01 00:00:00

  • Interobserver reliability of video recording in the diagnosis of nocturnal frontal lobe seizures.

    abstract:BACKGROUND:Nocturnal frontal lobe seizures (NFLS) show one or all of the following semeiological patterns: (1) paroxysmal arousals (PA: brief and sudden recurrent motor paroxysmal behavior); (2) hyperkinetic seizures (HS: motor attacks with complex dyskinetic features); (3) asymmetric bilateral tonic seizures (ATS: mot...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2007.01121.x

    authors: Vignatelli L,Bisulli F,Provini F,Naldi I,Pittau F,Zaniboni A,Montagna P,Tinuper P

    更新日期:2007-08-01 00:00:00

  • Epilepsy in general practice: the Dutch situation.

    abstract::Treatment and supervision of epileptic patients is part of specialist medicine. A possible change in the role of specialists and general practitioners in the care of these patients was explored by a questionnaire mailed to all Dutch neurologists and a random sample of general practitioners. Patients were also asked th...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1986.tb03603.x

    authors: Rutgers MJ

    更新日期:1986-11-01 00:00:00

  • Role of comorbidities in outcome prediction after status epilepticus.

    abstract::Status epilepticus (SE) is associated with significant mortality and morbidity. A reliable prognosis may help better manage medical resources and treatment strategies. We examined the role of preexisting comorbidities on the outcome of patients with SE, an aspect that has received little attention to date. We prospect...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2012.03451.x

    authors: Alvarez V,Januel JM,Burnand B,Rossetti AO

    更新日期:2012-05-01 00:00:00

  • Valproate treatment and platelet function: the role of arachidonate metabolites.

    abstract:PURPOSE:Valproate (VPA) is an extensively used drug in the therapy of epilepsies. One of the most frequently reported side effects of VPA is hemorrhagic diathesis. Some authors emphasized the decreased platelet count as the basis of VPA-induced hemorrhagic diathesis, but some reports suggested that a significant propor...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1999.tb00709.x

    authors: Kis B,Szupera Z,Mezei Z,Gecse A,Telegdy G,Vécsei L

    更新日期:1999-03-01 00:00:00

  • Mechanisms of video-game epilepsy.

    abstract:PURPOSE:We aimed to elucidate the mechanisms underlying video-game epilepsy by comparing the flicker- and spatial-frequency ranges over which photic and pattern stimulation elicited photoparoxysmal responses in two different populations: (a) 25 patients with a history of seizures experienced while playing video games; ...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1999.tb00903.x

    authors: Fylan F,Harding GF,Edson AS,Webb RM

    更新日期:1999-01-01 00:00:00

  • Epidemiology of epilepsy in rural Benin: prevalence, incidence, mortality, and follow-up.

    abstract:PURPOSE:Epilepsy is a major clinical and social issue in Africa. This study was conducted to estimate the prevalence, incidence, mortality, and therapeutic outcome in rural Djidja in Benin. METHODS:This was a two-phase study with a cross-sectional phase and 18 months of follow-up. In the first phase, information was o...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.12082

    authors: Houinato D,Yemadje LP,Glitho G,Adjien C,Avode G,Druet-Cabanac M,Preux PM

    更新日期:2013-04-01 00:00:00

  • Relative frequency of different types of epilepsy: a study employing the classification of the International League Against Epilepsy.

    abstract::Approximately three-quarters of epileptic patients seen in consultation by specialists can easily be assigned to one of the diagnostic categories of the International League against Epilepsy. When patient age is taken into account, such a distribution shows that partial epilepsy is more common than generalized epileps...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1975.tb06073.x

    authors: Gastaut H,Gastaut JL,Gonçalves e Silva GE,Fernandez Sanchez GR

    更新日期:1975-09-01 00:00:00

  • Effects of NMDA- and AMPA-receptor antagonists on different forms of epileptiform activity in rat temporal cortex slices.

    abstract::Lowering extracellular magnesium induces different patterns of epileptiform activity in rat hippocampus and entorhinal cortex. Short recurrent epileptiform discharges in the hippocampus are stable over time, whereas seizure-like events (SLEs) in the entorhinal cortex, the subiculum, and the neighboring neocortex devel...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1994.tb05973.x

    authors: Zhang CL,Gloveli T,Heinemann U

    更新日期:1994-01-01 00:00:00

  • Prediction of seizure-onset laterality by using Wada memory asymmetries in pediatric epilepsy surgery candidates.

    abstract:PURPOSE:Because the capacity of intracarotid amobarbital (Wada) memory assessment to predict seizure-onset laterality in children has not been thoroughly investigated, three comprehensive epilepsy surgery centers pooled their data and examined Wada memory asymmetries to predict side of seizure onset in children being c...

    journal_title:Epilepsia

    pub_type: 杂志文章,多中心研究

    doi:10.1046/j.1528-1157.2002.48301.x

    authors: Lee GP,Park YD,Hempel A,Westerveld M,Loring DW

    更新日期:2002-09-01 00:00:00