A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

Abstract:

:Mutations in genes encoding ion channels in brain neurons have been identified in various epilepsy syndromes. In neuronal networks, "gain-of-function" of channels in excitatory neurotransmission could lead to hyper-excitation while "loss-of-function" in inhibitory transmission impairs neuronal inhibitory system, both of which can result in epilepsy. A working hypothesis to view epilepsy as a disorder of channel or "channelopathy" seems rational to explore the pathogenesis of epilepsy. However, the imbalance resulting from channel dysfunction is not sufficient to delineate the pathogenesis of all epilepsy syndromes of which the underlying channel abnormalities have been verified. Mutations identified in epilepsy, mainly in genes encoding subunits of GABA(A) receptors, undermine intracellular trafficking, thus leading to retention of channel molecules in the endoplasmic reticulum (ER). This process may cause ER stress followed by apoptosis, which is a known pathomechanism of certain neurodegenerative disorders. Thus, the pathomechanism of "channel trafficking abnormality" may provide a new paradigm to channelopathy to unsolved questions underlying epilepsy, such as differences between generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy, which share the causative genetic abnormalities in the same genes and hence are so far considered to be within the spectrum of one disease entity or allelic variants.

journal_name

Epilepsy Res

journal_title

Epilepsy research

authors

Hirose S

doi

10.1016/j.eplepsyres.2005.12.007

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

S206-17

eissn

0920-1211

issn

1872-6844

pii

S0920-1211(06)00198-7

journal_volume

70 Suppl 1

pub_type

杂志文章,评审
  • Depression in patients with temporal lobe epilepsy is related to mesial temporal sclerosis.

    abstract::Depression is a frequent psychiatric symptom in epilepsy and has been related to epilepsy of temporal origin, especially of left-sided foci. No study differentiated the precise localization of the epileptogenic lesion within the temporal lobe. Regarding this issue, we evaluated depression assessed by the Beck Depressi...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/s0920-1211(99)00117-5

    authors: Quiske A,Helmstaedter C,Lux S,Elger CE

    更新日期:2000-04-01 00:00:00

  • Effects of levetiracetam as a monotherapy on bone mineral density and biochemical markers of bone metabolism in patients with epilepsy.

    abstract:PURPOSE:Antiepileptic drugs (AEDs) may have adverse effects on bone metabolism and bone mineral density (BMD). The aim of this study is to determine the changes of bone metabolism and BMD in epilepsy patients who are undergoing levetiracetam (LEV) monotherapy. METHODS:Drug-naïve, sixty-one patients with recent onset e...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2012.09.002

    authors: Koo DL,Joo EY,Kim D,Hong SB

    更新日期:2013-03-01 00:00:00

  • Comparison of the preclinical anticonvulsant profiles of tiagabine, lamotrigine, gabapentin and vigabatrin.

    abstract::Tiagabine is a novel antiepileptic drug which has clinical efficacy against complex refractory and myoclonic seizures. The anticonvulsant mechanism of action of tiagabine results from its blockade of neuronal and glial GABA-uptake, thereby increasing GABA levels in the synaptic cleft. Here we present a comparison of t...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/s0920-1211(97)00031-4

    authors: Dalby NO,Nielsen EB

    更新日期:1997-07-01 00:00:00

  • Cancer mortality amongst people with epilepsy: a study of two cohorts with severe and presumed milder epilepsy.

    abstract:BACKGROUND:People with epilepsy may experience an altered pattern of mortality due to cancer. We determined cancer mortality in two distinct populations with epilepsy: (i) an institutionalised cohort with severe epilepsy (SEC) and (ii) another cohort with presumed milder epilepsy (MEC). METHODS:Mortality data from 197...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2008.11.001

    authors: Singh G,Fletcher O,Bell GS,McLean AE,Sander JW

    更新日期:2009-02-01 00:00:00

  • Effects of Jasminum multiflorum leaf extract on rodent models of epilepsy, motor coordination and anxiety.

    abstract::Jasmine flowers and leaves are used extensively in folk medicine in different parts of the world to treat a variety of diseases. However, there are very few published reports on the neuropsychiatric effects of Jasmine extracts. Hence, the objectives of the present study were to examine the effects of an alcohol extrac...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2017.02.012

    authors: Addae JI,Pingal R,Walkins K,Cruickshank R,Youssef FF,Nayak SB

    更新日期:2017-03-01 00:00:00

  • Sex-specific distinctions in audiogenic convulsions exhibited by severe seizure genetically epilepsy-prone rats (GEPR-9s).

    abstract::The severe seizure genetically epilepsy-prone rat (GEPR-9) is characterized by a broad-based seizure predisposition and is increasingly recognized as a useful model of epilepsy. When sound stimulated, members of the GEPR-9 colony exhibit complete tonic extensor convulsions. Female GEPR-9s appear to experience a higher...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/0920-1211(88)90039-3

    authors: Mishra PK,Dailey JW,Reigel CE,Tomsic ML,Jobe PC

    更新日期:1988-09-01 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

  • NTRK2 (TrkB gene) variants and temporal lobe epilepsy: A genetic association study.

    abstract:OBJECTIVE:The NTRK2 gene encodes a member of the neurotrophic tyrosine kinase receptor family known as TrkB. It is a membrane-associated receptor with signaling and cellular differentiation properties that has been involved in neuropsychiatric disorders, including epilepsy. We report here the frequencies of NTRK2 allel...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2017.08.010

    authors: Torres CM,Siebert M,Bock H,Mota SM,Krammer BR,Duarte JÁ,Bragatti JA,Castan JU,de Castro LA,Saraiva-Pereira ML,Bianchin MM

    更新日期:2017-11-01 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

  • Electroencephalographic differences between WAG/Rij and GAERS rat models of absence epilepsy.

    abstract::The inbred Wistar Albino Glaxo Rats from Rijswijk (WAG/Rij) and the Genetic Absence Epilepsy Rats from Strasbourg (GAERS) are well-validated genetic models of absence epilepsy. Although they share similar characteristics including the spike-and-wave discharges (SWDs) in the EEG, some differences have been reported bet...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2009.12.005

    authors: Akman O,Demiralp T,Ates N,Onat FY

    更新日期:2010-05-01 00:00:00

  • Assessing hippocampal functional reserve in temporal lobe epilepsy: a multi-voxel pattern analysis of fMRI data.

    abstract::Assessing the functional reserve of key memory structures in the medial temporal lobes (MTL) of pre-surgical patients with intractable temporal lobe epilepsy (TLE) remains a challenge. Conventional functional MRI (fMRI) memory paradigms have yet to fully convince of their ability to confidently assess the risk of a po...

    journal_title:Epilepsy research

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.eplepsyres.2013.01.004

    authors: Bonnici HM,Sidhu M,Chadwick MJ,Duncan JS,Maguire EA

    更新日期:2013-07-01 00:00:00

  • The ketogenic diet does not alter brain expression of orexigenic neuropeptides.

    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

    authors: Tabb K,Szot P,White SS,Liles LC,Weinshenker D

    更新日期:2004-11-01 00:00:00

  • Anticonvulsant and neuroprotective effects of ginsenosides in rats.

    abstract::A partially purified extract from American ginseng has been shown to have anticonvulsant activity. To identify the active components in this extract, the activities of the individual ginsenosides (Rb(1), Rb(3) and Rd), mixtures of the purified ginsenosides and a newly prepared Rb fraction were determined. One hour aft...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2006.05.010

    authors: Lian XY,Zhang Z,Stringer JL

    更新日期:2006-08-01 00:00:00

  • Increased membrane shedding--indicated by an elevation of CD133-enriched membrane particles--into the CSF in partial epilepsy.

    abstract:PURPOSE:Recent analyses provided evidence that human adult cerebrospinal fluid (CSF) in addition to soluble proteins also contains membrane particles that moreover carry the somatic stem cell marker CD133. The significance of CD133 as a potential marker of cellular proliferation, including neurogenesis, remains unresol...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2011.10.029

    authors: Huttner HB,Corbeil D,Thirmeyer C,Coras R,Köhrmann M,Mauer C,Kuramatsu JB,Kloska SP,Doerfler A,Weigel D,Klucken J,Winkler J,Pauli E,Schwab S,Hamer HM,Kasper BS

    更新日期:2012-03-01 00:00:00

  • An on demand macaque model of mesial temporal lobe seizures induced by unilateral intra hippocampal injection of penicillin.

    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

    authors: Sherdil A,Chabardès S,Guillemain I,Michallat S,Prabhu S,Pernet-Gallay K,David O,Piallat B

    更新日期:2018-05-01 00:00:00

  • Introduction to zonisamide.

    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

    authors: Baulac M

    更新日期:2006-02-01 00:00:00

  • Spatiotemporal mapping of interictal epileptiform discharges in human absence epilepsy: A MEG study.

    abstract:PURPOSE:Although absence epilepsy is considered to be a prototypic type of generalized epilepsy, it is still under debate whether generalized 3 Hz spike-and-wave discharges (SWDs) might have a cortical focal origin. Here it is investigated whether focal interictal epileptiform discharges (IEDs), which typically occur i...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2015.11.013

    authors: Rozendaal YJ,van Luijtelaar G,Ossenblok PP

    更新日期:2016-01-01 00:00:00

  • Convulsive seizures and EEG spikes after lateral fluid-percussion injury in the rat.

    abstract::The rat lateral fluid-percussion injury (FPI) model has been used extensively to study post-traumatic epilepsy (PTE). Epidemiological studies have reported that the risk of PTE is higher after more severe injury. Adult, male Wistar rats subjected to different atmospheric pressures of injury during FPI showed great var...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2018.09.005

    authors: Smith D,Rau T,Poulsen A,MacWilliams Z,Patterson D,Kelly W,Poulsen D

    更新日期:2018-11-01 00:00:00

  • Early effect of sodium valproate and carbamazepine monotherapy on homocysteine metabolism in children with epilepsy.

    abstract::Plasma total homocysteine (p-tHcy), serum folate (s-F), serum vitamin B-12 (s-B12) and plasma pyridoxal-5'-phosphate (p-PLP) were measured in epileptic children before and after a 20-week period of sodium valproate (group A, n=32) and carbamazepine (group B, n=20) monotherapy. P-tHcy significantly increased in both gr...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2006.06.015

    authors: Attilakos A,Papakonstantinou E,Schulpis K,Voudris K,Katsarou E,Mastroyianni S,Garoufi A

    更新日期:2006-10-01 00:00:00

  • Potential delays in referral and assessment for epilepsy surgery in children with drug-resistant, early-onset epilepsy.

    abstract:OBJECTIVE:To study potential delays in epilepsy surgery in children with drug-resistant epilepsy (DRE) of early-onset. METHODS:Medical records were reviewed from 87 children with DRE and seizure onset before age 3 years who underwent epilepsy surgery between 2006 and 2015. Information was obtained about each child's e...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2018.04.001

    authors: Prideaux L,Barton S,Maixner W,Harvey AS

    更新日期:2018-07-01 00:00:00

  • The relationship between seizure frequency, seizure type and quality of life: findings from three European countries.

    abstract::Understanding the relationship between seizure frequency, seizure type and scores obtained from quality of life (QOL) measures is important if the incorporation of QOL measures into epilepsy clinical trials is to become standard practice. There is also a need to consider cross-cultural differences obtained from QOL me...

    journal_title:Epilepsy research

    pub_type: 杂志文章,多中心研究

    doi:10.1016/s0920-1211(98)00010-2

    authors: Baker GA,Gagnon D,McNulty P

    更新日期:1998-05-01 00:00:00

  • Transition to seizure in photosensitive epilepsy.

    abstract::Photosensitive epilepsy (PSE) offers a highly reproducible model to investigate whether changes in neuronal activity preceding the transition to an epileptic photoparoxysmal response (PPR) may be detected. We investigated this possibility in patients with idiopathic PSE using MEG, as well as normal controls and non-ph...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2011.10.022

    authors: Lopes da Silva FH,Harding GF

    更新日期:2011-12-01 00:00:00

  • Rates of antiepileptic drug reduction in active epilepsy--current practice.

    abstract::We have surveyed the rates at which clinicians in the U.K. and Eire withdraw antiepileptic drugs (AEDs) in patients with active epilepsy. Practice differed widely and there was a lack of consensus regarding the rates employed. Inpatient reductions were 2-4 times faster than outpatient reductions. AED reductions tended...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/0920-1211(87)90060-x

    authors: Duncan JS,Shorvon SD

    更新日期:1987-11-01 00:00:00

  • The effects of anticonvulsant agents on 4-aminopyridine induced epileptiform activity in rat hippocampus in vitro.

    abstract::Six anticonvulsant drugs, phenytoin (PHT), carbamazepine (CBZ), valproate (VPA), U-54494A, losigamone (LOS), and D-20443, were studied using rat hippocampal slices and standard electrophysiological techniques. The K+ channel blocker, 4-aminopyridine (4-AP), was used as neuronal stimulant. The extracellular parameters ...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/0920-1211(94)00077-a

    authors: Yonekawa WD,Kapetanovic IM,Kupferberg HJ

    更新日期:1995-02-01 00:00:00

  • NR2B antagonists restrict spatiotemporal spread of activity in a rat model of cortical dysplasia.

    abstract::Freeze-lesion-induced focal cortical dysplasia in rats closely resembles human microgyria, a neuronal migration disorder associated with drug-resistant epilepsy. Alterations in expression of N-methyl-D-aspartate receptors (NMDARs) containing NR2B subunits have been suggested to play a role in the hyperexcitability see...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2006.07.013

    authors: Bandyopadhyay S,Hablitz JJ

    更新日期:2006-12-01 00:00:00

  • Ketogenic diet does not change NKCC1 and KCC2 expression in rat hippocampus.

    abstract::In control rats, we examined the effects of ketogenic diet on NKCC1 and KCC2 expression levels in hippocampus. Neither the number of NKCC1 immunoreactive cells nor the intensity of labeling of KCC2 was found to modify in hippocampus of the rats after ketogenic diet treatment. These results indicate that ketogenic diet...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2011.05.017

    authors: Gómez-Lira G,Mendoza-Torreblanca JG,Granados-Rojas L

    更新日期:2011-09-01 00:00:00

  • Whole-brain MEG connectivity-based analyses reveals critical hubs in childhood absence epilepsy.

    abstract::Absence seizures are thought to be linked to abnormal interplays between regions of a thalamocortical network. However, the complexity of this widespread network makes characterizing the functional interactions among various brain regions challenging. Using whole-brain functional connectivity and network analysis of m...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/j.eplepsyres.2018.06.001

    authors: Youssofzadeh V,Agler W,Tenney JR,Kadis DS

    更新日期:2018-09-01 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

  • A common genetic basis for idiosyncratic toxicity of warfarin and phenytoin.

    abstract::CYP2C9 is mainly responsible for the metabolic clearance of phenytoin and (S)-warfarin. We have shown previously that mutations in the CYP2C9 gene are associated with diminished metabolism of (S)-warfarin, and so we have now studied the metabolism of phenytoin to its primary inactive metabolite, (S)-pHPPH, by these mu...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/s0920-1211(99)00017-0

    authors: Rettie AE,Haining RL,Bajpai M,Levy RH

    更新日期:1999-07-01 00:00:00

  • The electrophysiological effects of multiple subpial transection (MST) in an experimental model of epilepsy induced by cortical stimulation.

    abstract::Multiple subpial transection (MST) is an effective surgical therapy for patients with intractable seizures whose epileptogenic lesions lie in the cortex and are unresectable. Morrell developed this procedure and reported clinical results obtained using it. However, only the disappearance of epileptiform discharges aft...

    journal_title:Epilepsy research

    pub_type: 杂志文章

    doi:10.1016/0920-1211(95)00003-s

    authors: Sugiyama S,Fujii M,Ito H

    更新日期:1995-05-01 00:00:00