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[PMID]:28464258
[Au] Autor:Vorderwülbecke BJ; Kowski AB; Kirschbaum A; Merkle H; Senf P; Janz D; Holtkamp M
[Ad] Endereço:Department of Neurology, Epilepsy-Center Berlin-Brandenburg, Charité - University Medicine Berlin, Berlin, Germany.
[Ti] Título:Long-term outcome in adolescent-onset generalized genetic epilepsies.
[So] Source:Epilepsia;58(7):1244-1250, 2017 07.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Until now, it has been unclear if the three subsyndromes of adolescent-onset generalized genetic epilepsy (GGE) differ in long-term prognosis. Therefore, this study aimed to compare long-term seizure outcome in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). METHODS: This retrospective study is based on the archive of an institutional tertiary care outpatient clinic for adult patients with epilepsy. Charts of 870 epilepsy outpatients were reviewed among whom 176 had adolescent-onset GGE (53 JAE, 66 JME, 57 EGTCS). Median patient age at investigation was 60 years; median follow-up time was 42.5 years. If possible, GGE patients were additionally interviewed on psychosocial and clinical variables. RESULTS: Age at first seizure was significantly higher in EGTCS patients (median 18 years) than in patients with JAE or JME (14 years each; p ≤ 0.001). Long-term seizure outcome hardly differed between the three subsyndromes. At the end of follow-up, 60% of all patients were in 5-year terminal seizure remission, and in 14%, epilepsy even had resolved (>10 years without seizures, >5 years without pharmacotherapy). Twenty percent of patients had persistent seizures during the last year of follow-up. Across all patients, 23% reported a psychiatric comorbidity, 87% had married, and 57% had achieved university entrance qualification. SIGNIFICANCE: Long-term outcome was shown to be highly similar across all subsyndromes of adolescent-onset GGE. Even in a selection of difficult-to-treat epilepsy patients still attending an adult epilepsy clinic, most become seizure-free. To confirm these findings, prospective studies are needed.
[Mh] Termos MeSH primário: Epilepsia Tipo Ausência/diagnóstico
Epilepsia Tipo Ausência/genética
Epilepsia Generalizada/diagnóstico
Epilepsia Generalizada/genética
Epilepsia Tônico-Clônica/diagnóstico
Epilepsia Tônico-Clônica/genética
Epilepsia Mioclônica Juvenil/diagnóstico
Epilepsia Mioclônica Juvenil/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anticonvulsivantes/uso terapêutico
Epilepsia Tipo Ausência/tratamento farmacológico
Epilepsia Generalizada/tratamento farmacológico
Epilepsia Tônico-Clônica/tratamento farmacológico
Feminino
Seres Humanos
Masculino
Meia-Idade
Epilepsia Mioclônica Juvenil/tratamento farmacológico
Prognóstico
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180107
[Lr] Data última revisão:
180107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13761


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[PMID]:28949013
[Au] Autor:Aaberg KM; Surén P; Søraas CL; Bakken IJ; Lossius MI; Stoltenberg C; Chin R
[Ad] Endereço:National Center for Epilepsy, Oslo University Hospital, University of Oslo, Oslo, Norway.
[Ti] Título:Seizures, syndromes, and etiologies in childhood epilepsy: The International League Against Epilepsy 1981, 1989, and 2017 classifications used in a population-based cohort.
[So] Source:Epilepsia;58(11):1880-1891, 2017 Nov.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The study provides updated information about the distribution of seizures, epilepsies, and etiologies of epilepsy in the general child population, and compares the old and new classification systems from the International League Against Epilepsy (ILAE). METHODS: The study platform was the Norwegian Mother and Child Cohort Study. Cases of epilepsy were identified through registry linkages and sequential parental questionnaires. Epilepsy diagnoses were validated using a standardized protocol, and seizures, epilepsies, and etiologies were classified according to the old (ILAE 1981/1989) and new (ILAE 2017) classifications. Information was collected through medical record reviews and/or parental telephone interviews. RESULTS: The study population included 112,744 children aged 3-13 years at the end of follow-up on December 31, 2012. Of these, there were 606 children with epilepsy (CWE). Distribution of seizure types varied by age of onset. Multiple seizure types were common with early onset. Focal epilepsies were the most common, occurring in 317 per 100,000 children in the study population and in 59% of CWE. Generalized epilepsies were found in 190 per 100,000 (35% of CWE). CWE with onset during the first 2 years of life had an even distribution of focal and generalized epilepsies, whereas focal epilepsies became dominant at later ages of onset. A definite cause of epilepsy had been demonstrated in 33% of CWE. The ILAE 1989 classification allowed for a broad syndrome category in 93% of CWE and a defined epileptic syndrome in 37%. With the ILAE 2017 classification, 41% of CWE had a defined epileptic syndrome and 63% had either a defined syndrome or structural-metabolic etiology. SIGNIFICANCE: The distribution of seizures and epilepsies is strongly dependent on age of onset. Despite diagnostic advances, the causes of epilepsy are still unknown in two-thirds of CWE. The ILAE 2017 classifications allow for a higher precision of diagnoses, but at the expense of leaving more epilepsies classifiable only at the mode of onset level.
[Mh] Termos MeSH primário: Epilepsia Tipo Ausência/classificação
Epilepsia Tipo Ausência/etiologia
Internacionalidade
Vigilância da População
Convulsões/classificação
Convulsões/etiologia
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Estudos de Coortes
Epilepsia Tipo Ausência/diagnóstico
Feminino
Seguimentos
Seres Humanos
Masculino
Noruega/epidemiologia
Vigilância da População/métodos
Convulsões/diagnóstico
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170927
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13913


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[PMID]:28916534
[Au] Autor:Shinnar RC; Shinnar S; Cnaan A; Clark P; Dlugos D; Hirtz DG; Hu F; Liu C; Masur D; Weiss EF; Glauser TA; Childhood Absence Epilepsy Study Group
[Ad] Endereço:From Montefiore Medical Center (R.C.S., S.S., D.M., E.F.W.), Albert Einstein College of Medicine, Bronx, NY; George Washington University (A.C.), Washington, DC; Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine (P.C., C.L., T.A.G.), OH; The Children'
[Ti] Título:Pretreatment behavior and subsequent medication effects in childhood absence epilepsy.
[So] Source:Neurology;89(16):1698-1706, 2017 Oct 17.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To characterize pretreatment behavioral problems and differential effects of initial therapy in children with childhood absence epilepsy (CAE). METHODS: The Child Behavior Checklist (CBCL) was administered at baseline, week 16-20, and month 12 visits of a randomized double-blind trial of ethosuximide, lamotrigine, and valproate. Total problems score was the primary outcome measure. RESULTS: A total of 382 participants at baseline, 310 participants at the week 16-20 visit, and 168 participants at the month 12 visit had CBCL data. At baseline, 8% (95% confidence interval [CI] 6%-11%) of children with CAE had elevated total problems scores (mean 52.9 ± 10.91). At week 16-20, participants taking valproic acid had significantly higher total problems (51.7 [98.3% CI 48.6-54.7]), externalizing problems (51.4 [98.3% CI 48.5-54.3]), attention problems (57.8 [98.3% CI 55.6-60.0]), and attention-deficit/hyperactivity problems (55.8 [98.3% CI 54.1-57.6]) scores compared to participants taking ethosuximide (46.5 [98.3% CI 43.4-49.6]; 45.8 [98.3% CI 42.9-48.7]; 54.6 [98.3% CI 52.4-56.9]; 53.0 [98.3% CI 51.3-54.8]). Lack of seizure freedom and elevated week 16-20 Conner Continuous Performance Test confidence index were associated with worse total problems scores. At month 12, participants taking valproic acid had significantly higher attention problems scores (57.9 [98.3% CI 55.6-60.3]) compared to participants taking ethosuximide (54.5 [95% CI 52.1-56.9]). CONCLUSIONS: Pretreatment and ongoing behavioral problems exist in CAE. Valproic acid is associated with worse behavioral outcomes than ethosuximide or lamotrigine, further reinforcing ethosuximide as the preferred initial therapy for CAE. CLINICALTRIALSGOV IDENTIFIER: NCT00088452. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that for children with CAE, valproic acid is associated with worse behavioral outcomes than ethosuximide or lamotrigine.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Transtornos do Comportamento Infantil/etiologia
Epilepsia Tipo Ausência/complicações
Epilepsia Tipo Ausência/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Lista de Checagem
Criança
Transtornos do Comportamento Infantil/diagnóstico
Transtornos do Comportamento Infantil/tratamento farmacológico
Pré-Escolar
Estudos Cross-Over
Método Duplo-Cego
Eletroencefalografia
Etossuximida/uso terapêutico
Feminino
Seguimentos
Seres Humanos
Masculino
Testes Neuropsicológicos
Avaliação de Resultados (Cuidados de Saúde)
Triazinas/uso terapêutico
Ácido Valproico/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Triazines); 5SEH9X1D1D (Ethosuximide); 614OI1Z5WI (Valproic Acid); U3H27498KS (lamotrigine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170917
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004514


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[PMID]:28913875
[Au] Autor:Santolini I; Celli R; Cannella M; Imbriglio T; Guiducci M; Parisi P; Schubert J; Iacomino M; Zara F; Lerche H; Moyanova S; Ngomba RT; van Luijtelaar G; Battaglia G; Bruno V; Striano P; Nicoletti F; EuroEPINOMICS CoGIE Consortium; Genetic Commission of Italian League Against Epilepsy (LICE)
[Ad] Endereço:I.R.C.C.S. Neuromed, Pozzilli, Italy.
[Ti] Título:Alterations in the α δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
[So] Source:Epilepsia;58(11):1993-2001, 2017 Nov.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Thrombospondins, which are known to interact with the α δ subunit of voltage-sensitive calcium channels to stimulate the formation of excitatory synapses, have recently been implicated in the process of epileptogenesis. No studies have been so far performed on thrombospondins in models of absence epilepsy. We examined whether expression of the gene encoding for thrombospondin-1 was altered in the brain of WAG/Rij rats, which model absence epilepsy in humans. In addition, we examined the frequency of genetic variants of THBS1 in a large cohort of children affected by idiopathic/genetic generalized epilepsies (IGE/GGEs). METHODS: We measured the transcripts of thrombospondin-1 and α δ subunit, and protein levels of α δ, Rab3A, and the vesicular glutamate transporter, VGLUT1, in the somatosensory cortex and ventrobasal thalamus of presymptomatic and symptomatic WAG/Rij rats and in two control strains by real-time polymerase chain reaction (PCR) and immunoblotting. We examined the genetic variants of THBS1 and CACNA2D1 in two independent cohorts of patients affected by IGE/GGE recruited through the Genetic Commission of the Italian League Against Epilepsy (LICE) and the EuroEPINOMICS-CoGIE Consortium. RESULTS: Thrombospondin-1 messenger RNA (mRNA) levels were largely reduced in the ventrobasal thalamus of both presymptomatic and symptomatic WAG/Rij rats, whereas levels in the somatosensory cortex were unchanged. VGLUT1 protein levels were also reduced in the ventrobasal thalamus of WAG/Rij rats. Genetic variants of THBS1 were significantly more frequent in patients affected by IGE/GGE than in nonepileptic controls, whereas the frequency of CACNA2D1 was unchanged. SIGNIFICANCE: These findings suggest that thrombospondin-1 may have a role in the pathogenesis of IGE/GGEs.
[Mh] Termos MeSH primário: Canais de Cálcio/genética
Modelos Animais de Doenças
Epilepsia Tipo Ausência/genética
Epilepsia Generalizada/genética
Trombospondina 1/genética
[Mh] Termos MeSH secundário: Animais
Canais de Cálcio/biossíntese
Estudos de Coortes
Epilepsia Tipo Ausência/metabolismo
Epilepsia Generalizada/metabolismo
Seres Humanos
Masculino
Ratos
Ratos Wistar
Trombospondina 1/biossíntese
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CACNA2D1 protein, human); 0 (Calcium Channels); 0 (Thrombospondin 1); 0 (thrombospondin-1, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170916
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13898


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[PMID]:28709121
[Au] Autor:Kokkinos V; Koupparis AM; Koutroumanidis M; Kostopoulos GK
[Ad] Endereço:Department of Clinical Neurophysiology and Epilepsies, Guy's, St Thomas' and Evelina Hospital for Children, NHS Foundation Trust, London, United Kingdom; Neurophysiology Unit, Department of Physiology, Medical School, University of Patras, Greece. Electronic address: info@vasileioskokkinos.gr.
[Ti] Título:Spatiotemporal propagation patterns of generalized ictal spikes in childhood absence epilepsy.
[So] Source:Clin Neurophysiol;128(9):1553-1562, 2017 Sep.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: This work investigates the spatial distribution in time of generalized ictal spikes in the typical absences of childhood absence epilepsy (CAE). METHODS: We studied twelve children with CAE, who had more than two typical absences during their routine video-EEG. Seizures were identified, and ictal spikes were marked over the maximum electronegative peak, clustered, waveform-averaged and spatiotemporaly analyzed in 2D electrode space. RESULTS: Consistency of spatiotemporal patterns of ictal spikes was high between the absences of the same child, but low between children. Three main discharge patterns were identified: of anterio-posterior propagation, of posterio-anterior propagation and confined to the frontal/prefrontal regions. In 4 patients, the propagation patterns transformed during the seizure into either a lateralized diminished or a non-lateralized reverse direction form. Most spikes originated fronto-temporaly, all maximized over the frontal/prefrontal electrodes and mostly decayed prefrontaly. In 4 patients, lateralized propagation patterns were identified. CONCLUSIONS: Ictal spike propagation patterns suggest that epileptogenic CAE networks are personalized, interconnect distal areas in the brain - not the entire cortex - with a tendency to generate bilateral symmetrical discharges, sometimes unsuccessfully. The transformation of propagation patterns during the seizure indicates the existence of dynamic interplay within epileptogenic networks. SIGNIFICANCE: Our results support the revised concept of ictogenesis of ILAE definition in genetic (also known as idiopathic) generalized epilepsies. Understanding the focal features in CAE avoids misdiagnosis as focal epilepsy and inappropriate treatment.
[Mh] Termos MeSH primário: Potenciais de Ação/fisiologia
Encéfalo/fisiopatologia
Eletroencefalografia
Epilepsia Tipo Ausência/diagnóstico
Epilepsia Tipo Ausência/fisiopatologia
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Eletroencefalografia/métodos
Feminino
Seres Humanos
Masculino
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170715
[St] Status:MEDLINE


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[PMID]:28708842
[Au] Autor:Casillas-Espinosa PM; Powell KL; Zhu M; Campbell CR; Maia JM; Ren Z; Jones NC; O'Brien TJ; Petrovski S
[Ad] Endereço:Department of Medicine, The Royal Melbourne Hospital, The University of Melbourne, Parkville, Victoria, Australia.
[Ti] Título:Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain.
[So] Source:PLoS One;12(7):e0179924, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) are an inbreed Wistar rat strain widely used as a model of genetic generalised epilepsy with absence seizures. As in humans, the genetic architecture that results in genetic generalized epilepsy in GAERS is poorly understood. Here we present the strain-specific variants found among the epileptic GAERS and their related Non-Epileptic Control (NEC) strain. The GAERS and NEC represent a powerful opportunity to identify neurobiological factors that are associated with the genetic generalised epilepsy phenotype. METHODS: We performed whole genome sequencing on adult epileptic GAERS and adult NEC rats, a strain derived from the same original Wistar colony. We also generated whole genome sequencing on four double-crossed (GAERS with NEC) F2 selected for high-seizing (n = 2) and non-seizing (n = 2) phenotypes. RESULTS: Specific to the GAERS genome, we identified 1.12 million single nucleotide variants, 296.5K short insertion-deletions, and 354 putative copy number variants that result in complete or partial loss/duplication of 41 genes. Of the GAERS-specific variants that met high quality criteria, 25 are annotated as stop codon gain/loss, 56 as putative essential splice sites, and 56 indels are predicted to result in a frameshift. Subsequent screening against the two F2 progeny sequenced for having the highest and two F2 progeny for having the lowest seizure burden identified only the selected Cacna1h GAERS-private protein-coding variant as exclusively co-segregating with the two high-seizing F2 rats. SIGNIFICANCE: This study highlights an approach for using whole genome sequencing to narrow down to a manageable candidate list of genetic variants in a complex genetic epilepsy animal model, and suggests utility of this sequencing design to investigate other spontaneously occurring animal models of human disease.
[Mh] Termos MeSH primário: Canais de Cálcio Tipo T/genética
Epilepsia Tipo Ausência/genética
Genoma
[Mh] Termos MeSH secundário: Animais
Encéfalo/diagnóstico por imagem
Encéfalo/metabolismo
Encéfalo/patologia
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Modelos Animais de Doenças
Eletroencefalografia
Epilepsia Tipo Ausência/patologia
Feminino
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Masculino
Polimorfismo de Nucleotídeo Único
Ratos
Ratos Wistar
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cacna1h protein, rat); 0 (Calcium Channels, T-Type); 9007-49-2 (DNA)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170715
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0179924


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[PMID]:28658605
[Au] Autor:Henbid MT; Marks WN; Collins MJ; Cain SM; Snutch TP; Howland JG
[Ad] Endereço:Department of Physiology, University of Saskatchewan, Saskatoon, SK S7N 5E5, Canada.
[Ti] Título:Sociability impairments in Genetic Absence Epilepsy Rats from Strasbourg: Reversal by the T-type calcium channel antagonist Z944.
[So] Source:Exp Neurol;296:16-22, 2017 Oct.
[Is] ISSN:1090-2430
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Childhood absence epilepsy (CAE) is associated with interictal co-morbid symptoms including abnormalities in social behaviour. Genetic Absence Epilepsy Rats from Strasbourg (GAERS) is a model of CAE that exhibits physiological and behavioural alterations characteristic of the human disorder. However, it is unknown if GAERS display the social deficits often observed in CAE. Sociability in rodents is thought to be mediated by neural circuits densely populated with T-type calcium channels and GAERS contain a missense mutation in the Cav3.2 T-type calcium channel gene. Thus, the objective of this study was to examine the effects of the clinical stage pan-T-type calcium channel blocker, Z944, on sociability behaviour in male and female GAERS and non-epileptic control (NEC) animals. Female GAERS showed reduced sociability in a three-chamber sociability task whereas male GAERS, male NECs, and female NECs all showed a preference for the chamber containing a stranger rat. In drug trials, pre-treatment with 5mg/kg of Z944 normalized sociability in female GAERS. In contrast, female NECs showed impaired sociability following Z944 treatment. Dose-dependent decreases in locomotor activity were noted following Z944 treatment in both strains. Treatment with 10mg/kg of Z944 altered exploration such that only 8 of the 16 rats tested explored both sides of the testing chamber. In those that explored the chamber, significant preference for the stranger rat was observed in GAERS but not NECs. Overall, the data suggest that T-type calcium channels are critical in regulating sociability in both GAERS and NEC animals. Future research should focus on T-type calcium channels in the treatment of sociability deficits observed in disorders such as CAE.
[Mh] Termos MeSH primário: Acetamidas/uso terapêutico
Benzamidas/uso terapêutico
Bloqueadores dos Canais de Cálcio/uso terapêutico
Epilepsia Tipo Ausência/complicações
Transtornos do Comportamento Social/tratamento farmacológico
Transtornos do Comportamento Social/etiologia
[Mh] Termos MeSH secundário: Análise de Variância
Animais
Canais de Cálcio Tipo T/metabolismo
Modelos Animais de Doenças
Epilepsia Tipo Ausência/genética
Comportamento Exploratório/efeitos dos fármacos
Feminino
Locomoção/efeitos dos fármacos
Locomoção/genética
Masculino
Ratos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Acetamides); 0 (Benzamides); 0 (Calcium Channel Blockers); 0 (Calcium Channels, T-Type); 0 (Z944 compound)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170629
[St] Status:MEDLINE


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[PMID]:28238546
[Au] Autor:Makinson CD; Tanaka BS; Sorokin JM; Wong JC; Christian CA; Goldin AL; Escayg A; Huguenard JR
[Ad] Endereço:Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA 94304, USA.
[Ti] Título:Regulation of Thalamic and Cortical Network Synchrony by Scn8a.
[So] Source:Neuron;93(5):1165-1179.e6, 2017 Mar 08.
[Is] ISSN:1097-4199
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Voltage-gated sodium channel (VGSC) mutations cause severe epilepsies marked by intermittent, pathological hypersynchronous brain states. Here we present two mechanisms that help to explain how mutations in one VGSC gene, Scn8a, contribute to two distinct seizure phenotypes: (1) hypoexcitation of cortical circuits leading to convulsive seizure resistance, and (2) hyperexcitation of thalamocortical circuits leading to non-convulsive absence epilepsy. We found that loss of Scn8a leads to altered RT cell intrinsic excitability and a failure in recurrent RT synaptic inhibition. We propose that these deficits cooperate to enhance thalamocortical network synchrony and generate pathological oscillations. To our knowledge, this finding is the first clear demonstration of a pathological state tied to disruption of the RT-RT synapse. Our observation that loss of a single gene in the thalamus of an adult wild-type animal is sufficient to cause spike-wave discharges is striking and represents an example of absence epilepsy of thalamic origin.
[Mh] Termos MeSH primário: Canal de Sódio Disparado por Voltagem NAV1.6/genética
Canal de Sódio Disparado por Voltagem NAV1.6/metabolismo
Rede Nervosa/metabolismo
Sinapses/metabolismo
Tálamo/metabolismo
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Eletroencefalografia/métodos
Epilepsia Tipo Ausência/genética
Epilepsia Tipo Ausência/metabolismo
Camundongos
Fenótipo
Convulsões/genética
Convulsões/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.6 Voltage-Gated Sodium Channel); 0 (Scn8a protein, mouse)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170228
[St] Status:MEDLINE


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[PMID]:28195639
[Au] Autor:Brigo F; Igwe SC
[Ad] Endereço:Department of Neuroscience, Biomedicine and Movement, University of Verona, P.le L.A. Scuro, 10, Verona, Verona, Italy, 37134.
[Ti] Título:Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents.
[So] Source:Cochrane Database Syst Rev;2:CD003032, 2017 02 14.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: This is an updated version of the original Cochrane review originally published in 2003, Issue 3, and updated in 2005, Issue 4.Absence seizures are brief epileptic seizures which present in childhood and adolescence. Depending on clinical features and electroencephalogram (EEG) findings they are divided into typical, atypical absences, and absences with special features. Typical absences are characterised by sudden loss of awareness and an EEG typically shows generalised spike wave discharges at three cycles per second. Ethosuximide, valproate and lamotrigine are currently used to treat absence seizures. This review aims to determine the best choice of antiepileptic drug for children and adolescents with typical absence seizures. OBJECTIVES: To review the evidence for the effects of ethosuximide, valproate and lamotrigine as treatments for children and adolescents with absence seizures, when compared with placebo or each other. SEARCH METHODS: We searched the Cochrane Epilepsy Group's Specialized Register (1 September 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 1 September 2016), MEDLINE (Ovid, 1946 to 1 September 2016), ClinicalTrials.gov (1 September 2016) and the WHO International Clinical Trials Registry Platform ICTRP (1 September 2016). Previously we searched Embase (1988 to March 2005) and SCOPUS (1823 to 31 March 2014). No language restrictions were imposed. In addition, we contacted Sanofi Winthrop, Glaxo Wellcome (now GlaxoSmithKline) and Parke Davis (now Pfizer), manufacturers of sodium valproate, lamotrigine and ethosuximide respectively. SELECTION CRITERIA: Randomised parallel group monotherapy or add-on trials which include a comparison of any of the following in children or adolescents with absence seizures: ethosuximide; sodium valproate; lamotrigine; or placebo. DATA COLLECTION AND ANALYSIS: Outcome measures were: (1) proportion of individuals seizure free at one, three, six, 12 and 18 months post randomisation; (2) people with a 50% or greater reduction in seizure frequency; (3) normalisation of EEG and/or negative hyperventilation test; and (4) adverse effects. Data were independently extracted by two review authors. Results are presented as risk ratios (RR) with 95% confidence intervals (95% CIs). MAIN RESULTS: Eight small trials were found (three of them not included in the previous version of the review). Six of them were of poor methodological quality and seven recruited less than 50 participants. There are no placebo-controlled trials for ethosuximide or valproate, and hence, no evidence from randomised controlled trials to support a specific effect on absence seizures for either of these two drugs. Due to the differing methodologies used in the trials comparing ethosuximide, lamotrigine and valproate, we thought it inappropriate to undertake a meta-analysis. One large randomised, parallel double-blind controlled trial comparing ethosuximide, lamotrigine and sodium valproate in children with newly diagnosed childhood absence epilepsy found that at 12 months, the freedom-from-failure rates for ethosuximide and valproic acid (VPA) were similar and were higher than the rate for lamotrigine. The frequency of treatment failures due to lack of seizure control (P < 0.001) and intolerable adverse events (P < 0.037) was significantly different among the treatment groups, with the largest proportion of lack of seizure control in the lamotrigine cohort, and the largest proportion of adverse events in the VPA group. Overall, this large study demonstrates the superior effectiveness of ethosuximide and VPA compared to lamotrigine as initial monotherapy aimed to control seizures without intolerable adverse effects in children with childhood absence epilepsy. AUTHORS' CONCLUSIONS: With regards to both efficacy and tolerability, ethosuximide represents the optimal initial empirical monotherapy for children and adolescents with absence seizures. However, if absence and generalised tonic-clonic seizures coexist, valproate should be preferred, as ethosuximide is probably inefficacious on tonic-clonic seizures.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Epilepsia Tipo Ausência/tratamento farmacológico
Etossuximida/uso terapêutico
Triazinas/uso terapêutico
Ácido Valproico/uso terapêutico
[Mh] Termos MeSH secundário: Adolescente
Anticonvulsivantes/efeitos adversos
Criança
Etossuximida/efeitos adversos
Seres Humanos
Ensaios Clínicos Controlados Aleatórios como Assunto
Triazinas/efeitos adversos
Ácido Valproico/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Triazines); 5SEH9X1D1D (Ethosuximide); 614OI1Z5WI (Valproic Acid); U3H27498KS (lamotrigine)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170530
[Lr] Data última revisão:
170530
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD003032.pub3


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[PMID]:28195311
[Au] Autor:Currie SP; Luz LL; Booker SA; Wyllie DJ; Kind PC; Daw MI
[Ad] Endereço:Muir Maxwell Epilepsy Centre, Patrick Wild Centre, Centre for Integrative Physiology, University of Edinburgh, Edinburgh, United Kingdom.
[Ti] Título:Reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABA γ2 R43Q mouse model of absence epilepsy.
[So] Source:Epilepsia;58(4):597-607, 2017 Apr.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Absence seizures in childhood absence epilepsy are initiated in the thalamocortical (TC) system. We investigated if these seizures result from altered development of the TC system before the appearance of seizures in mice containing a point mutation in γ-aminobutyric acid A (GABA ) receptor γ2 subunits linked to childhood absence epilepsy (R43Q). Findings from conditional mutant mice indicate that expression of normal γ2 subunits during preseizure ages protect from later seizures. This indicates that altered development in the presence of the R43Q mutation is a key contributor to the R43Q phenotype. We sought to identify the cellular processes affected by the R43Q mutation during these preseizure ages. METHODS: We examined landmarks of synaptic development at the end of the critical period for somatosensory TC plasticity using electrophysiologic recordings in TC brain slices from wild-type mice and R43Q mice. RESULTS: We found that the level of TC connectivity to layer 4 (L4) principal cells and the properties of TC synapses were unaltered in R43Q mice. Furthermore, we show that, although TC feedforward inhibition and the total level of GABAergic inhibition were normal, there was a reduction in the local connectivity to cortical interneurons. This reduction leads to altered inhibition during bursts of cortical activity. SIGNIFICANCE: This altered inhibition demonstrates that alterations in cortical circuitry precede the onset of seizures by more than a week.
[Mh] Termos MeSH primário: Epilepsia Tipo Ausência/genética
Epilepsia Tipo Ausência/patologia
Interneurônios/fisiologia
Mutação Puntual/genética
Receptores de GABA-A/genética
Córtex Somatossensorial/patologia
[Mh] Termos MeSH secundário: Potenciais de Ação/efeitos dos fármacos
Potenciais de Ação/genética
Análise de Variância
Animais
Animais Recém-Nascidos
Arginina/genética
Modelos Animais de Doenças
Feminino
Ácido Glutâmico/genética
Técnicas In Vitro
Potenciais Pós-Sinápticos Inibidores/efeitos dos fármacos
Potenciais Pós-Sinápticos Inibidores/genética
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Técnicas de Patch-Clamp
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, GABA-A); 3KX376GY7L (Glutamic Acid); 94ZLA3W45F (Arginine)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13693



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