Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy

Serratosa, Joan; Delgado‐Escueta, Antonio V.; Medina, Marco T.; Zhang, Quanwei; Iranmanesh, Reza; Sparkes, Robert S.

doi:10.1002/ana.410390208

Cited by 51 publications

(34 citation statements)

References 23 publications

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“…Genetic linkage studies in a few large families with a presumably monogenic trait of idiopathic generalized epilepsy (IGE) revealed loci on chromosomes 6p and 15q14 for juvenile myoclonic epilepsy [JME; 6p: Greenberg et al, 1988;Serratosa et al, 1996;Sander et al, 1997;15q14: Elmslie et al, 1997] and on 8q24 for childhood absence epilepsy [CAE, Fong et al, 1998;Sugimoto et al, 2000]. In two linkage studies using a large number of smaller IGE families, the 8q24 locus was also found, while the 6p locus could not be veri®ed [Zara et al, 1995]; other potential loci were described on 2q36, 3q26, and 14q23; 15q14 was con®rmed .…”

Section: Association Of Ion Channel Defects With Common Forms Of Idiomentioning

confidence: 99%

Ion channels and epilepsy

2001

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Ion channels provide the basis for the regulation of excitability in the central nervous system and in other excitable tissues such as skeletal and heart muscle. Consequently, mutations in ion channel encoding genes are found in a variety of inherited diseases associated with hyper- or hypoexcitability of the affected tissue, the so-called 'channelopathies.' An increasing number of epileptic syndromes belongs to this group of rare disorders: Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in a neuronal nicotinic acetylcholine receptor (affected genes: CHRNA4, CHRNB2), benign familial neonatal convulsions by mutations in potassium channels constituting the M-current (KCNQ2, KCNQ3), generalized epilepsy with febrile seizures plus by mutations in subunits of the voltage-gated sodium channel or the GABA(A) receptor (SCN1B, SCN1A, GABRG2), and episodic ataxia type 1-which is associated with epilepsy in a few patients--by mutations within another voltage-gated potassium channel (KCNA1). These rare disorders provide interesting models to study the etiology and pathophysiology of disturbed excitability in molecular detail. On the basis of genetic and electrophysiologic studies of the channelopathies, novel therapeutic strategies can be developed, as has been shown recently for the antiepileptic drug retigabine activating neuronal KCNQ potassium channels.

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Section: Association Of Ion Channel Defects With Common Forms Of Idiomentioning

confidence: 99%

Ion channels and epilepsy

2001

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“…Two susceptibility genes (EJM1 and EJM2) have been assigned to the short arm of chromosome 6 in families ascertained through JME patients or in families who exhibit no pyknoleptic absence seizures [Greenberg et al, 1988;Liu et al, 1995Liu et al, , 1996Serratosa et al, 1996]. Subsequent studies both confirmed [Weissbecker et al, 1991;Durner et al, 1991] or rejected [Whitehouse et al, 1993;Delgado-Escueta et al, 1994] the existence of an IGE locus on chromosome 6.…”

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Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit α4 with common idiopathic generalized epilepsies

et al. 1997

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The alpha4 subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has recently been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human, autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE). CHRNA4 is located in the candidate region for benign familial neonatal convulsions and low-voltage EEG on chromosome 20q. In the present study, we examined the possible role of CHRNA4 in common subtypes of idiopathic generalized epilepsy (IGE), comprising childhood and juvenile absence epilepsy and juvenile myoclonic epilepsy (JME), by systematically screening the coding region of the gene for sequence variants. We present here a population-based association study testing the hypothesis that variants of the CHRNA4 gene confer genetic susceptibility to common subtypes of IGE. The missense mutation (Ser248Phe), associated with ADNFLE, and four silent polymorphisms in the CHRNA4 gene were genotyped in 103 IGE patients and 92 controls by polymerase chain reaction and subsequent restriction analysis. Without correction for multiple testing, the frequency of the T-allele of the silent CfoI bp595 polymorphism was increased in the entire group of IGE patients (f(T) = 0.085) compared to that in the controls (f(T) = 0.027). The allelic association was not restricted to any subgroup of IGE with either JME or idiopathic absence epilepsies. This result suggests that variation of the CHRNA4 gene, or so-far-undetected sequence variants near the CHRNA4 locus, confer susceptibility to the common IGE syndromes.

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“…O eletrencefalograma mostra ritmo de base normal e típicos complexos de espícula-onda e/ou multiespícula/onda generalizados, bilaterais e síncronos [3][4][5] . Os achados clínicos e eletrencefalográficos típicos associados a frequente ocorrência de EMJ e outras formas de epilepsia em parentes de probandos afetados sugerem que EMJ tem forte predisposição genética [6][7][8][9][10] .…”

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Estudo clínico-epidemiológico de pacientes com epilepsia mioclônica juvenil em Santa Catarina

Figueredo¹,

Trevisol-Bittencourt

Ferro³

1999

Arq. Neuro-Psiquiatr.

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RESUMO -Realizamos estudo retrospectivo em 26 pacientes com epilepsia mioclônica juvenil (EMJ) no intuito de traçar seu perfil clínico e estabelecer a prevalência da síndrome entre pacientes com epilepsias diversas. Critérios de inclusão no estudo foram: a) abalos mioclônicos, preferentemente matinais; b) início dos sintomas entre 8 e 26 anos; c) laudo eletrencefalográfico típico; e d) boa resposta ao valproato de sódio (VPA). A prevalência de EMJ, entre 939 pacientes com epilepsias diversas, foi de 2,8%. Observou-se nítido predomínio do sexo feminino (73,1%). A idade de início dos sintomas variou de 7 a 18, média de 13 anos. Crises tônico-clônicas e de ausência eram apresentadas concomitantemente por, respectivamente, 92,3 e 19,2% da amostra. Além disso 92.3% deles apresentavam atividade epileptiforme típica em seus eletrencefalogramas e 76,9% evidenciaram boa resposta ao VPA com dose diária variando de 500mg a 1500mg.PALAVRAS-CHAVE: epilepsia, mioclonias, valproato de sódio. Clinical-epidemiological study of patients with juvenile myoclonic epilepsy in Santa Catarina State -BrazilABSTRACT -We aimed to characterize the clinical profile and to establish the prevalence of juvenile myoclonic epilepsy (JME) among 939 consecutive patients referred to our epilepsy clinic. Inclusion criteria in the study were: a) myoclonic jerks, preferably on awakening; b) beginning of the symptoms between 8 and 26 year-ofage; c) typical pattern of electroencephalographic discharges; and d) good response to sodium valproate (VPA). In a retrospective design, 26 cases of JME were identified (prevalence 2.8%). Most of these patients were female (73.1%). Mean age at onset of symptoms was 13 (range 7-18). Tonic-clonic seizures were reported in 92.3% and absence seizures in 19.2%. Besides, 92.3% of the patients had typical EEG epileptiform activity and 76.9% had good response to VPA with daily dose ranging from 500mg to 1500mg. KEY WORDS: epilepsy, myoclonic jerks, sodium valproate.Epilepsia mioclônica juvenil (EMJ) é síndrome relativamente frequente, representando cerca de 4 a 12% de todos os pacientes com epilepsia 1 . Ambos os sexos são afetados mas não podemos afirmar se o são na mesma proporção ou se há predomínio de um sobre o outro 2 . A idade de início das manifestações varia entre 9 e 27 com maior acometimento na faixa de 13-20 anos 3 . A tríade característica consiste de crises de ausência típicas, abalos mioclônicos ao despertar e crises tônico-clônicas, frequentemente precedidas por abalos. As crises de ausência na EMJ costumam iniciar entre 5 e 16 anos mas têm participação restrita, pois estão presentes entre 10 a 39% dos pacientes.1,3 Abalos mioclônicos estão presentes em 100% dos casos 3 e costumam ocorrer entre 1 a 6 anos após manifestações das crises de ausência. Entretanto, naqueles que não iniciam com ausências, tais crises usualmente começam por volta dos 10 anos de idade. Por sua vez, as crises tônico-clônicas estão presentes em 90 a 95% 3 dos pacientes e costumam surgir alguns meses após as primeiras manifestações mio...

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Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy

Cited by 51 publications

References 23 publications

Ion channels and epilepsy

Ion channels and epilepsy

Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit α4 with common idiopathic generalized epilepsies

Estudo clínico-epidemiológico de pacientes com epilepsia mioclônica juvenil em Santa Catarina

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