Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.

Abstract:

:Familial frontal epilepsy has been recently described in six pedigrees. All families reported show autosomal dominant inheritance with incomplete penetrance. Affected individuals develop predominantly nocturnal seizures with frontal lobe semiology. In 1959, a genetic mouse model for partial epilepsy, the El mouse, was reported. In the El mouse, a major seizure susceptibility gene, El-1, segregates in an autosomal dominant fashion and has been localized to a region distal to the centromere of mouse ch 9. Comparative genetic maps between man and mouse have been used to predict the location of several human disease genes. The El-1 locus in the mouse is homologous to human chromosomes 3p23-p21.2, 3p11.2-q11.2, 3q21-q25.3, 6p12-q12 and 15q24. Polymorphic microsatellite markers covering these candidate regions were used for genotyping individuals in the three larger families ascertained, one of which is French-Canadian and two are Australian. Significant negative two-point and multipoint lod scores were obtained separately for each family, thus excluding linkage with the candidate regions on chromosomes 3, 6 and 15.

journal_name

Epilepsy Res

journal_title

Epilepsy research

authors

Lopes-Cendes I,Phillips HA,Scheffer IE,Mulley JC,Desbiens R,Andermann E,Cendes F,Verret S,Andermann F,Berkovic SF

doi

10.1016/0920-1211(95)00049-6

subject

Has Abstract,Author List Incomplete

pub_date

1995-11-01 00:00:00

pages

227-33

issue

3

eissn

0920-1211

issn

1872-6844

pii

0920121195000496

journal_volume

22

pub_type

杂志文章
  • Kindling: some old and some new.

    abstract::A brief review of kindling is provided, which highlights some important points of historical interest often overlooked by researchers. These points include the fact that the original rating scale of convulsive seizures presented by Racine 'EEG Clin. Neurophysiol 32 (1972) 281'. was based on amygdala kindling, and may ...

    journal_title:Epilepsy research

    pub_type: 杂志文章,评审

    doi:10.1016/s0920-1211(02)00071-2

    authors: McIntyre DC,Poulter MO,Gilby K

    更新日期:2002-06-01 00:00:00

  • Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures.

    abstract::Focal epilepsy (FE) is one of the most common forms of adult epilepsy and is usually regarded as a multifactorial disorder. Febrile seizures (FS) often appear during childhood in a subtype of FE patients, i.e. with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS). FS are the most common human convulsive eve...

    journal_title:Epilepsy research

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.eplepsyres.2013.10.007

    authors: Belhedi N,Perroud N,Karege F,Vessaz M,Malafosse A,Salzmann A

    更新日期:2014-01-01 00:00:00

  • When is a child with status epilepticus likely to have Dravet syndrome?

    abstract:PURPOSE:To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE). MATERIAL AND METHODS:Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seiz...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2014.02.019

    authors: Le Gal F,Lebon S,Ramelli GP,Datta AN,Mercati D,Maier O,Combescure C,Rodriguez MI,Seeck M,Roulet E,Korff CM

    更新日期:2014-05-01 00:00:00

  • Genetic seizure susceptibility underlying acute encephalopathies in childhood.

    abstract::We herein investigated risk factors of pediatric acute encephalopathy (AE) regarding the hitherto uncharacterized genetic background of seizure susceptibility underlying the pathogenesis of AE. The study included 15 patients with a history of various types of AE in childhood. We undertook the mutational analysis of th...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2010.07.005

    authors: Kobayashi K,Ouchida M,Okumura A,Maegaki Y,Nishiyama I,Matsui H,Ohtsuka Y,Ohmori I

    更新日期:2010-10-01 00:00:00

  • The impact of epilepsy duration in a series of patients with mesial temporal lobe epilepsy due to unilateral hippocampal sclerosis.

    abstract:PURPOSE:To evaluate if the duration of epilepsy influences MRI volumes of the hippocampus, amygdala, parahippocampal gyrus, entorhinal cortex and temporal pole of both hemispheres and epileptogenic hippocampus neuronal cell density and dentate gyrus granular cells distribution in patients with refractory mesial tempora...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2018.08.009

    authors: Duarte JTC,Jardim AP,Comper SM,De Marchi LR,Gaça LB,Garcia MTFC,Sandim GB,Assunção-Leme IB,Carrete H Jr,Centeno RS,Lancellotti CLP,Jackowski AP,Cavalheiro EA,Guaranha MSB,Yacubian EMT

    更新日期:2018-11-01 00:00:00

  • The influence of old age and enzyme inducing comedication on the pharmacokinetics of valproic acid at steady-state: A case-matched evaluation based on therapeutic drug monitoring data.

    abstract:PURPOSE:To evaluate the influence of aging on the pharmacokinetics of valproic acid (VPA) at steady-state and on the susceptibility of VPA metabolism to enzyme induction by antiepileptic comedication. METHODS:The database of the therapeutic drug monitoring service of a large neurological hospital was searched to ident...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2006.04.002

    authors: Fattore C,Messina S,Battino D,Croci D,Mamoli D,Perucca E

    更新日期:2006-08-01 00:00:00

  • Progress report on new antiepileptic drugs: a summary of the Third Eilat Conference.

    abstract::The Third Eilat Conference on New Antiepileptic Drugs was held at the Royal Beach Hotel from May 27 to May 30, 1996. Epileptologists and scientists from 20 countries attended the conference, which was held to discuss critical issues in drug development, new antiepileptic drugs (AEDs) in development, progress reports a...

    journal_title:Epilepsy research

    pub_type:

    doi:10.1016/s0920-1211(96)00081-2

    authors: Bialer M,Johannessen SI,Kupferberg HJ,Levy RH,Loiseau P,Perucca E

    更新日期:1996-11-01 00:00:00

  • Factors associated with behavioral problems in children with idiopathic epilepsy.

    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

    authors: Dafoulis V,Kalyva E

    更新日期:2012-06-01 00:00:00

  • Long-term mortality in children and young adults with epilepsy--A population-based cohort study.

    abstract:PURPOSE:Epilepsy is associated with an increased mortality. This study estimates the effects of co-morbid disorders on short-term and long-term mortality and presents cause-specific mortality for children and young adults with epilepsy. METHODS:We established a population-based cohort of 1,855,946 children born in Den...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2015.05.001

    authors: Christensen J,Pedersen CB,Sidenius P,Olsen J,Vestergaard M

    更新日期:2015-08-01 00:00:00

  • Transcriptome analysis of rat dorsal hippocampal CA1 after an early life seizure induced by kainic acid.

    abstract::Seizures that occur during early development are associated with adverse neurodevelopmental outcomes. Causation and mechanisms are currently under investigation. Induction of an early life seizure by kainic acid (KA) in immature rats on post-natal day (P) 7 results in behavioral changes in the adult rat that reflect s...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2020.106283

    authors: O'Leary H,Vanderlinden L,Southard L,Castano A,Saba LM,Benke TA

    更新日期:2020-03-01 00:00:00

  • Experimental secondarily generalized convulsive status epilepticus induced by D,L-homocysteine thiolactone.

    abstract::Secondarily generalized convulsive status epilepticus was induced by intraperitoneal (i.p.) injection of D,L-homocysteine thiolactone to rats with actively epileptogenic cobalt lesions in motor cortex. This induced focal motor seizures which secondarily generalized. Control animals not treated with antiepileptic drugs...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/0920-1211(88)90023-x

    authors: Walton NY,Treiman DM

    更新日期:1988-03-01 00:00:00

  • Optimal window for ictal blood flow mapping. Insight from the study of discrete temporo-limbic seizures in rats.

    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

    authors: Chassagnon S,André V,Koning E,Ferrandon A,Nehlig A

    更新日期:2006-05-01 00:00:00

  • Etiology and site of temporal lobe epilepsy influence postictal cytokine release.

    abstract::Inflammatory mechanisms are involved in the pathogenesis of epilepsy. Vice versa, immune functions are regulated by the brain. We measured postictal changes in serum levels of the immuno-modulating cytokines IL-1beta, IL-6 and TNFalpha in patients with well-defined temporal lobe epilepsy (TLE) and determined modifying...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2009.05.009

    authors: Bauer S,Cepok S,Todorova-Rudolph A,Nowak M,Köller M,Lorenz R,Oertel WH,Rosenow F,Hemmer B,Hamer HM

    更新日期:2009-09-01 00:00:00

  • Somatic complications of epilepsy surgery over 25 years at a single center.

    abstract:INTRODUCTION:Epilepsy surgery is an effective treatment for refractory focal epilepsy. Risks of surgery need to be considered when advising individuals of treatment options. We describe the frequency and nature of physical adverse events associated with epilepsy surgery in a single center. MATERIAL AND METHODS:We revi...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2017.02.016

    authors: Gooneratne IK,Mannan S,de Tisi J,Gonzalez JC,McEvoy AW,Miserocchi A,Diehl B,Wehner T,Bell GS,Sander JW,Duncan JS

    更新日期:2017-05-01 00:00:00

  • Carbamazepine toxicity during combination therapy with levetiracetam: a pharmacodynamic interaction.

    abstract::Levetiracetam is a novel antiepileptic drug with an unknown mechanism of action. To-date levetiracetam is not known to be associated with any clinically significant pharmacokinetic interaction. Similarly, levetiracetam has not been associated with any pharmacodynamic interactions. We present four patients with severe ...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/s0920-1211(01)00309-6

    authors: Sisodiya SM,Sander JW,Patsalos PN

    更新日期:2002-02-01 00:00:00

  • The Neurotoxicity Scale--II. Results of a patient-based scale assessing neurotoxicity in patients with epilepsy.

    abstract::The Neurotoxicity Scale was devised as a patient-based report scale to assess the adverse effects of antiepileptic drugs on cognitive function. In a previous report we reported the clinical validity of the scale, tested in a double-blind randomized study, using a benzodiazepine in normal volunteers. In the present stu...

    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(97)01036-x

    authors: Aldenkamp AP,Baker GA

    更新日期:1997-06-01 00:00:00

  • The influence of etiology upon ictal semiology, treatment decisions and long-term outcomes in infantile spasms and West syndrome.

    abstract::Studying infantile spasms is challenging because there are so many aspects of variation that introduce potential bias. These might relate to the many underlying etiologies, and variations in clinical semiology and electroencephalographic features that relate more to age or timing of investigation than to the underlyin...

    journal_title:Epilepsy research

    pub_type: 杂志文章,评审

    doi:10.1016/j.eplepsyres.2006.01.017

    authors: Lux AL,Osborne JP

    更新日期:2006-08-01 00:00:00

  • Developmental outcome in benign myoclonic epilepsy in infancy and reflex myoclonic epilepsy in infancy: a literature review and six new cases.

    abstract::Benign myoclonic epilepsy in infancy is a rare syndrome with just over 100 cases reported since the first syndromic description by Dravet and Bureau [Dravet, C., Bureau, M., 1981. The benign myoclonic epilepsy of infancy. Rev. Elecroencephalogr. Neurophysiol. Clin. 11, 438-444]. This includes 23 infants with reflex my...

    journal_title:Epilepsy research

    pub_type: 杂志文章,评审

    doi:10.1016/j.eplepsyres.2006.01.014

    authors: Zuberi SM,O'Regan ME

    更新日期:2006-08-01 00:00:00

  • Alternate-site kindling in the guinea-pig results in accelerated seizure progression and generalization.

    abstract::In rats, the concurrent alternate elicitation of epileptiform activity in two forebrain structures can result in both the rapid production of severe seizures and the development of fully generalized seizures in one (dominant) site, while arresting the progress of seizure activity at intermediate stages in the other (s...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/s0920-1211(98)00103-x

    authors: Teskey GC,Thiessen EJ,Gilbert TH

    更新日期:1999-04-01 00:00:00

  • Use of cooking oils in a 2:1 ratio classical ketogenic diet for intractable pediatric epilepsy: Long-term effectiveness and tolerability.

    abstract:BACKGROUND:In many parts of eastern Asia, rice is a dietary staple and therefore the ketogenic diet (KD) can be difficult to administer. The aim of this study was to assess the long-term effectiveness and tolerability of the classical KD using a 2:1 ratio of fat to protein plus net carbohydrates, which is lower than th...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2018.09.002

    authors: Lee HF,Chi CS,Liao JH

    更新日期:2018-11-01 00:00:00

  • Smartphone applications for seizure care and management in children and adolescents with epilepsy: Feasibility and acceptability assessment among caregivers in China.

    abstract:OBJECTIVE:to determine the feasibility as well as the attitudes among caregivers of children and adolescents with epilepsy in China towards the use of smart phone applications (apps) for the management of seizures. METHODS:The caregivers of children and adolescents with epilepsy, ages ranging from 0 to 15 years, were ...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2016.08.002

    authors: Liu X,Wang R,Zhou D,Hong Z

    更新日期:2016-11-01 00:00:00

  • LPDs - «Linked to penumbra» discharges or EEG correlate of excitotoxicity: A review based hypothesis.

    abstract::Periodic lateralized epileptiform discharges (PLEDs) or lateralized periodic discharges (LPDs) are a well-known variant of pathological EEG activity. However, the mechanisms underpinning the appearance of this pattern are not completely understood. The heterogeneity of the features derived from LPDs patterns, and the ...

    journal_title:Epilepsy research

    pub_type: 杂志文章,评审

    doi:10.1016/j.eplepsyres.2020.106429

    authors: Chegodaev D,Pavlova NV,Pavlova P,Lvova O

    更新日期:2020-10-01 00:00:00

  • A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.

    abstract:SUMMARY:Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be partly caused by mutations in the transmembrane domain (TM) 1-3 of the genes of the neuronal nicotinic acetylcholine receptor (nAChR) alpha4-subunit (CHRNA4), beta2-subunit (CHRNB2) and alpha2-subunit (CHRNA2). The more common cases of s...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2008.10.009

    authors: Chen Y,Wu L,Fang Y,He Z,Peng B,Shen Y,Xu Q

    更新日期:2009-02-01 00:00:00

  • Antiepileptic drugs trials: neonates and infants.

    abstract::Special issues are related to AED testing in several populations. Pharmacokinetics, pharmacodynamics and underlying neurochemistry and developing systems require specific testing in appropriate infants with refractory seizures. EEG monitoring is an essential part of seizure definition and recognition, making it a nece...

    journal_title:Epilepsy research

    pub_type: 杂志文章,评审

    doi:10.1016/j.eplepsyres.2005.09.017

    authors: Pellock J

    更新日期:2006-01-01 00:00:00

  • Modeling epileptogenesis and temporal lobe epilepsy in a non-human primate.

    abstract::Here we describe a new non-human primate model of temporal lobe epilepsy (TLE) to better investigate the cause/effect relationships of human TLE. Status epilepticus (SE) was induced in adult marmosets by pilocarpine injection (250mg/kg; i.p.). The animals were divided in 2 groups: acute (8h post-SE) and chronic (3 and...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2011.04.015

    authors: Perez-Mendes P,Blanco MM,Calcagnotto ME,Cinini SM,Bachiega J,Papoti D,Covolan L,Tannus A,Mello LE

    更新日期:2011-09-01 00:00:00

  • Seeing the light? Seizures and sunlight.

    abstract::We examined 1715 seizures recorded on a dedicated epilepsy inpatient ward over 363 days in 2006-2007. Epileptic seizures, particularly complex partial seizures are less likely to occur on bright sunny days, than dull days. This correlation remains stable when seasonal patterns are controlled for. Non-epileptic attacks...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2008.11.015

    authors: Baxendale S

    更新日期:2009-03-01 00:00:00

  • Seizure detection using digital trend analysis: Factors affecting utility.

    abstract:BACKGROUND:EEG monitoring is important for the early detection of seizures during the course of critical illness. However, the logistics of real time EEG interpretation is challenging for the neurophysiology and critical care medicine teams. This study evaluated factors affecting the utility of digital trend analysis (...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2010.10.018

    authors: Akman CI,Micic V,Thompson A,Riviello JJ Jr

    更新日期:2011-01-01 00:00:00

  • The interactions between anticonvulsants and non-vitamin K antagonist oral anticoagulant agents: A systematic review.

    abstract::Use of non-vitamin K antagonist oral anticoagulants (NOACs), including dabigatran etexilate, rivaroxaban, apixaban, edoxaban or betrixaban provides a safe and convenient alternative to the traditional anticoagulation with vitamin K antagonists or heparin derivatives. Many patients receiving long-term seizure prophylax...

    journal_title:Epilepsy research

    pub_type: 杂志文章,评审

    doi:10.1016/j.eplepsyres.2020.106304

    authors: Taha M,Li W,Schmidt CM,Gonzalez-Castellon M,Taraschenko O

    更新日期:2020-05-01 00:00:00

  • Serum metalloproteinase 9 levels increase after generalized tonic-clonic seizures.

    abstract::Metalloproteinase 9 (MMP9) is a member of a family of enzymes that mediate the degradation of extracellular matrix proteins, and is especially involved in blood-brain barrier maintenance. Increased levels of MMP9 have been observed in many neurological disorders, including epilepsy, suggesting it may be involved in th...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2016.11.006

    authors: Cudna A,Jopowicz A,Mierzejewski P,Kurkowska-Jastrzębska I

    更新日期:2017-01-01 00:00:00

  • Rufinamide: a double-blind, placebo-controlled proof of principle trial in patients with epilepsy.

    abstract:OBJECTIVE:This was the first proof of principle clinical trial assessing the efficacy and safety of rufinamide as adjunctive therapy in epileptic patients. The pharmacokinetic (PK) profile of rufinamide was also determined. METHODS:Fifty patients with diagnoses of partial or primary generalized tonic-clonic seizures w...

    journal_title:Epilepsy research

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1016/s0920-1211(00)00185-6

    authors: Pålhagen S,Canger R,Henriksen O,van Parys JA,Rivière ME,Karolchyk MA

    更新日期:2001-02-01 00:00:00