Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.

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 Custom Amplicon (TSCA) sequencing approach was used to screen 10 ion channel genes in patients with idiopathic epilepsies. TSCA revealed a heterozygous single-nucleotide substitution in CHRNA2 gene (c.1126 C>T; p. Arg376Trp) that segregated in a family with BFIS; based on bio-informatics inspection, the change was predicted to be pathogenic. The investigated family includes parents and their three daughters. In affected individuals, seizures started between 6 and 24 months of age. Seizures were mainly in cluster and well-controlled. Outcome was good in all subjects. Even if nicotinic acetylcholine receptor genes are traditionally associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), this single-family description can open new possibilities in the genetic diagnosis, molecular characterization, and management of CHRNA2-related epilepsy. The pathogenic conversion of arginine 376 to tryptophan alters all of these interactions in the cytoplasmic domain, never reported to be involved in epileptogenic mechanism. Further functional tests will be necessary to strongly relate CHRNA2 mutation with BFIS phenotype.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Trivisano M,Terracciano A,Milano T,Cappelletti S,Pietrafusa N,Bertini ES,Vigevano F,Specchio N

doi

10.1111/epi.12967

subject

Has Abstract

pub_date

2015-05-01 00:00:00

pages

e53-7

issue

5

eissn

0013-9580

issn

1528-1167

journal_volume

56

pub_type

杂志文章
  • Association between regularly occurring complex partial seizures and thyroid function parameters.

    abstract::A 28-year-old man with regularly occurring clusters of complex partial seizures was studied over a total of 224 days. His seizure periods lasted 2-4 days and occurred at intervals of 5-6 weeks. Several parameters were studied. The most striking finding was an increase in the serum concentration of thyroxine prior to a...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1986.tb03561.x

    authors: Taubøll E,Stokke KT,Gjerstad L,Løyning Y,Johannessen SI

    更新日期:1986-07-01 00:00:00

  • Defining epileptogenic networks: Contribution of SEEG and signal analysis.

    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

    authors: Bartolomei F,Lagarde S,Wendling F,McGonigal A,Jirsa V,Guye M,Bénar C

    更新日期:2017-07-01 00:00:00

  • Epilepsy, vagal nerve stimulation by the NCP system, all-cause mortality, and sudden, unexpected, unexplained death.

    abstract:PURPOSE:This report concerns the 2-year extension of the study of mortality and sudden, unexpected, unexplained death in epilepsy (SUDEP) in the cohort of patients receiving vagal nerve stimulation by the NCP System for the treatment of epilepsy. METHODS:A cohort of 1,819 individuals was followed 3,176.3 person-years ...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.2000.tb00208.x

    authors: Annegers JF,Coan SP,Hauser WA,Leestma J

    更新日期:2000-05-01 00:00:00

  • In situ-produced 7-chlorokynurenate has different effects on evoked responses in rats with limbic epilepsy in comparison to naive controls.

    abstract:PURPOSE:Uncontrolled epilepsy remains a significant health concern and requires new approaches to therapy. N-methyl-d-aspartate (NMDA) receptor blockade has been considered, but the adverse cognitive and behavioral effects of conventional NMDA-receptor antagonists have prevented the development of clinically useful com...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2005.00281.x

    authors: Zhang DX,Williamson JM,Wu HQ,Schwarcz R,Bertram EH

    更新日期:2005-11-01 00:00:00

  • A screening test for the prediction of Dravet syndrome before one year of age.

    abstract:PURPOSE:Our aim was to develop a screening test to predict Dravet syndrome before the first birthday based on the clinical characteristics of infants and the SCN1A mutation analysis. METHODS:Ninety-six patients who experienced febrile seizures before the age of one were enrolled. The patients were divided into two gro...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2007.01475.x

    authors: Hattori J,Ouchida M,Ono J,Miyake S,Maniwa S,Mimaki N,Ohtsuka Y,Ohmori I

    更新日期:2008-04-01 00:00:00

  • Health care practitioners' perceptions of psychogenic nonepileptic seizures: A systematic review of qualitative and quantitative studies.

    abstract::A recent systematic synthesis of qualitative research demonstrated that patients with psychogenic nonepileptic seizures (PNES) often experience unsatisfactory encounters with health care practitioners (HCPs). It is important to understand such interactions from the perspective of those responsible for delivering care....

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.14189

    authors: Rawlings GH,Reuber M

    更新日期:2018-06-01 00:00:00

  • A kindling-like effect induced by repeated exposure to heated water in rats.

    abstract::Hyperthermia was induced in mature rats by immersing them in 20 cm of 45 degrees C water for 4 min. Rats were made hyperthermic once every 4 days for six exposures. A significant number had at least one convulsion by the third exposure. During the seventh exposure, 2 weeks after the sixth exposure, twice as many rats ...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1984.tb04192.x

    authors: Klauenberg BJ,Sparber SB

    更新日期:1984-06-01 00:00:00

  • The effects of transient functional depression of the thalamus on spindles and on bilateral synchronous epileptic discharges of feline generalized penicillin epilepsy.

    abstract::A transient functional depression of thalamic activity (TFDTA) was induced in acute experiments in cats by the microinjection of 25% KCl into the thalamus. Spontaneous and evoked thalamic electrical activity was markedly depressed at the site of KCl microinjection. Spread of this depression to other thalamic areas oft...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1981.tb06155.x

    authors: Avoli M,Gloor P

    更新日期:1981-08-01 00:00:00

  • Post-ictal accelerometer silence as a marker of post-ictal immobility.

    abstract:OBJECTIVE:Movement-based wearable sensors are used for detection of convulsive seizures. The identification of the absence of motion following a seizure, known as post-ictal immobility (PI), may represent a potential additional application of wearables. PI has been associated with potentially life-threatening complicat...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.16552

    authors: Bruno E,Böttcher S,Biondi A,Epitashvili N,Manyakov NV,Lees S,Schulze-Bonhage A,Richardson MP,RADAR-CNS Consortium.

    更新日期:2020-07-01 00:00:00

  • Parenteral penicillin in rats: an experimental model of multifocal epilepsy.

    abstract::Parenterally injected penicillin in rats induces a peculiar pattern of multifocal epilepsy. The effective amount is higher than that required in cats. The epileptiform activity initially appears on the cortical mantle of one hemisphere; after a variable delay, contralateral cortical spikes arise in a completely asynch...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1976.tb03399.x

    authors: Fariello RG

    更新日期:1976-06-01 00:00:00

  • Low frequency stimulation decreases seizure activity in a mutation model of epilepsy.

    abstract:PURPOSE:To investigate brain electrical activity in Q54 mice that display spontaneous seizures because of a gain-of-function mutation of the Scn2a sodium channel gene, and to evaluate the efficacy of low frequency deep brain stimulation (DBS) for seizure frequency reduction. METHODS:Electroencephalography (EEG), elect...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2010.02679.x

    authors: Kile KB,Tian N,Durand DM

    更新日期:2010-09-01 00:00:00

  • Pharmacokinetic profile of a 300-mg extended phenytoin sodium capsule (Dilantin) formulation.

    abstract::The pharmacokinetic profile of a newly developed Dilantin 300-mg Kapseal formulation was compared with that of currently marketed Dilantin 100-mg Kapseals in both a 300-mg single-dose bioequivalence study in nine healthy volunteers and a once-daily 300-mg multiple-dose study in 18 patients with seizures. Results of th...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1990.tb05503.x

    authors: Randinitis EJ,Buchanan RA,Kinkel AW

    更新日期:1990-07-01 00:00:00

  • The effects of epilepsy and its treatment on sexual and reproductive function.

    abstract::Male and female sexuality and reproductive functions are complex systems with cortical, limbic system, hypothalamic, pituitary, and end organ interactions. Sexual steroids are produced in the sexual glands, the adrenals, and the brain. They undergo interconversion in the brain, bind to different brain areas, and have ...

    journal_title:Epilepsia

    pub_type: 杂志文章,评审

    doi:10.1111/j.1528-1157.2000.tb01524.x

    authors: Penovich PE

    更新日期:2000-01-01 00:00:00

  • Methsuximide lowers lamotrigine blood levels: A pharmacokinetic antiepileptic drug interaction.

    abstract:PURPOSE:To determine whether methsuximide (MSM) affects lamotrigine (LTG) blood levels and whether any change is of clinical significance. METHODS:LTG serum levels in 16 patients taking MSM were compared with those before starting or after stopping the MSM. The 16 patients, (11 boys, five girls) were young people (mea...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.2000.tb00218.x

    authors: Besag FM,Berry DJ,Pool F

    更新日期:2000-05-01 00:00:00

  • Association of HLA genotypes with phenobarbital hypersensitivity in children.

    abstract:OBJECTIVE:Phenobarbital hypersensitivity is one of the common drug hypersensitivity syndromes in children. Clinical symptoms of phenobarbital hypersensitivity vary from maculopapular rashes (MPs) to severe cutaneous adverse drug reactions (SCARs) including drug reactions with eosinophilia and systemic symptoms (DRESS),...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.13509

    authors: Manuyakorn W,Mahasirimongkol S,Likkasittipan P,Kamchaisatian W,Wattanapokayakit S,Inunchot W,Visudtibhan A,Wichukchinda N,Benjaponpitak S

    更新日期:2016-10-01 00:00:00

  • The HLA-A*2402/Cw*0102 haplotype is associated with lamotrigine-induced maculopapular eruption in the Korean population.

    abstract::The use of lamotrigine (LTG) can be limited by the occurrence of cutaneous adverse drug reactions (cADRs) that range from maculopapular eruption (MPE) to the more severe Stevens-Johnson syndrome and toxic epidermal necrolysis. A few human leukocyte antigen (HLA)-related genetic risk factors for carbamazepine-induced c...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.13087

    authors: Moon J,Park HK,Chu K,Sunwoo JS,Byun JI,Lim JA,Kim TJ,Shin JW,Lee ST,Jung KH,Jung KY,Jeon D,Kim DW,Yu KS,Jang IJ,Kang HR,Park HW,Lee SK

    更新日期:2015-10-01 00:00:00

  • Surgery for intractable infantile spasms: neuroimaging perspectives.

    abstract::Twenty-three infants and children underwent cortical resection (n = 15) or hemispherectomy (n = 8) for intractable infantile spasms. Infantile spasms were present at the time of surgery in 17 of the 23 patients; in six, spasms had evolved to other seizure types during surgical evaluation. Children with a remote histor...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1993.tb00459.x

    authors: Chugani HT,Shewmon DA,Shields WD,Sankar R,Comair Y,Vinters HV,Peacock WJ

    更新日期:1993-07-01 00:00:00

  • The interictal language profile in adult epilepsy.

    abstract:OBJECTIVE:The purpose of this study was to systematically review the literature on the interictal language profile in adult patients with epilepsy. METHODS:An extensive literature search was performed using MEDLINE, Embase, PsycINFO, Cochrane Central Register of Controlled Trials, PASCAL, and PSYNDEXplus databases. Ke...

    journal_title:Epilepsia

    pub_type: 杂志文章,评审

    doi:10.1111/epi.12743

    authors: Bartha-Doering L,Trinka E

    更新日期:2014-10-01 00:00:00

  • Antiepileptic drug interactions.

    abstract::This article reviews the potential interactions of antiepileptic drugs (AEDs) and the pharmacokinetic and pharmacodynamic principles involved. It describes the absorptive and distributive properties of AEDs and the effects on protein binding, hepatic metabolism, and elimination resulting from co-administration of AEDs...

    journal_title:Epilepsia

    pub_type: 杂志文章,评审

    doi:10.1111/j.1528-1157.2000.tb02944.x

    authors: French JA,Gidal BE

    更新日期:2000-01-01 00:00:00

  • Participation of metabotropic glutamate receptors in pentetrazol-induced kindled seizure.

    abstract:PURPOSE:The present study was undertaken to clarify the effects of (RS)-1-aminoindan-1,5-dicarboxylic acid (AIDA), a metabotropic glutamate receptor (mGluR) 1 antagonist, (2R,4R)-4-aminopyrrolidine-2,4-dicarboxylate ((2R,4R)-APDC), a mGluR2/3 agonist, and L-(+)-2-amino-4-phosphonobutyric acid (L-AP4), a mGluR4/8 agonis...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2010.02764.x

    authors: Watanabe Y,Kaida Y,Fukuhara S,Takechi K,Uehara T,Kamei C

    更新日期:2011-01-01 00:00:00

  • Epilepsy, antiepileptic drugs, and the risk of spontaneous abortion.

    abstract::The possible effect of in utero antiepileptic drug (AED) exposure on the incidence of spontaneous abortion was evaluated among pregnancies of women with epilepsy and the wives of men with epilepsy. The proportion of pregnancy outcomes terminating in spontaneous abortion, the gestational age-specific rates of spontaneo...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1988.tb03745.x

    authors: Annegers JF,Baumgartner KB,Hauser WA,Kurland LT

    更新日期:1988-07-01 00:00:00

  • First epileptic seizure induced by occupational nickel poisoning.

    abstract::Toxic causes of seizures are numerous: alcohol and other substances of abuse, drugs, and industrial and household products. However, in the absence of a clearly suggestive history and/or associated symptoms and signs, identification of the toxic origin of new-onset seizures may be extremely difficult. We report here t...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2005.70004.x

    authors: Denays R,Kumba C,Lison D,De Bels D

    更新日期:2005-06-01 00:00:00

  • Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

    abstract:PURPOSE:To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS). METHODS:Twenty children with clinical and laboratory features of Glut-1 DS were evaluated. Age at seizure diagnosis, seizure classification, and response to treatment were determine...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1046/j.1528-1157.2003.05302.x

    authors: Leary LD,Wang D,Nordli DR Jr,Engelstad K,De Vivo DC

    更新日期:2003-05-01 00:00:00

  • Mortality after a first episode of status epilepticus in the United States and Europe.

    abstract:OBJECTIVE:In the last decade several studies have been published on incidence, etiology, and prognosis of status epilepticus (SE) with population-based data from the United States and Europe. The aim of this review is to summarize the available information on the epidemiology of SE and to outline the sources of the var...

    journal_title:Epilepsia

    pub_type: 杂志文章,评审

    doi:10.1111/j.1528-1167.2005.00409.x

    authors: Logroscino G,Hesdorffer DC,Cascino G,Hauser WA,Coeytaux A,Galobardes B,Morabia A,Jallon P

    更新日期:2005-01-01 00:00:00

  • A blinded, crossover study of the efficacy of the ketogenic diet.

    abstract::Despite over 80 years of use, the ketogenic diet (KD) has never been tested in a blinded manner. Twenty children with intractable Lennox-Gastaut syndrome (LGS) were fasted 36 h and then randomized to receive the classic KD in conjunction with a solution containing either 60 g/day of glucose or saccharin. Parents and p...

    journal_title:Epilepsia

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1528-1167.2008.01740.x

    authors: Freeman JM,Vining EP,Kossoff EH,Pyzik PL,Ye X,Goodman SN

    更新日期:2009-02-01 00:00:00

  • Lamotrigine versus other antiepileptic drugs: a star rating system is born.

    abstract::With the launching worldwide of a range of new antiepileptic drugs (AEDs), the prescriber has a much wider choice than ever before. Comparative studies between new and established AEDs are few, and those between new AEDs are rarely performed. This report considers the strengths and weaknesses of nine new and establish...

    journal_title:Epilepsia

    pub_type: 杂志文章,评审

    doi:10.1111/j.1528-1157.1994.tb05966.x

    authors: Brodie MJ

    更新日期:1994-01-01 00:00:00

  • Monotherapy or polytherapy for epilepsy revisited: a quantitative assessment.

    abstract::Some investigators argue that treating epilepsy with several antiepileptic drugs (AEDs) simultaneously (polytherapy) may give rise to more adverse effects than monotherapy, but this argument lacks supporting quantitative data. To reexamine this issue, we recruited a cohort of patients from the outpatients of the Speci...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1157.1995.tb00484.x

    authors: Lammers MW,Hekster YA,Keyser A,Meinardi H,Renier WO,van Lier H

    更新日期:1995-05-01 00:00:00

  • Interictal EEG and the diagnosis of epilepsy.

    abstract::The interictal EEG provides information that aids in diagnosis and management of epilepsy. One must remember that the EEG is merely a tool, and its usefulness depends largely upon the skill of the individual who wields it. Like all diagnostic tests, it has significant limitations and cannot substitute for a careful hi...

    journal_title:Epilepsia

    pub_type: 杂志文章,评审

    doi:10.1111/j.1528-1167.2006.00654.x

    authors: Pillai J,Sperling MR

    更新日期:2006-01-01 00:00:00

  • Females, their estrogens, and seizures.

    abstract::Estrogens are essential for normal brain functions. The effects of estrogens on seizures are contradictory. More studies are necessary to determine under which conditions the estrogens have proconvulsant effects and when the estrogens may have beneficial action in patients with epilepsy. ...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/j.1528-1167.2010.02629.x

    authors: Velísková J,De Jesus G,Kaur R,Velísek L

    更新日期:2010-07-01 00:00:00

  • Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.

    abstract:OBJECTIVE:Pathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy-B(F)NE)-or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants. METHODS:KCNQ2 pathogenic variants were collected from in-house data and two large disease da...

    journal_title:Epilepsia

    pub_type: 杂志文章

    doi:10.1111/epi.16314

    authors: Goto A,Ishii A,Shibata M,Ihara Y,Cooper EC,Hirose S

    更新日期:2019-09-01 00:00:00