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[PMID]:29335539
[Au] Autor:Eimon PM; Ghannad-Rezaie M; De Rienzo G; Allalou A; Wu Y; Gao M; Roy A; Skolnick J; Yanik MF
[Ad] Endereço:Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA, 02139, USA. peter.eimon@gmail.com.
[Ti] Título:Brain activity patterns in high-throughput electrophysiology screen predict both drug efficacies and side effects.
[So] Source:Nat Commun;9(1):219, 2018 01 15.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Neurological drugs are often associated with serious side effects, yet drug screens typically focus only on efficacy. We demonstrate a novel paradigm utilizing high-throughput in vivo electrophysiology and brain activity patterns (BAPs). A platform with high sensitivity records local field potentials (LFPs) simultaneously from many zebrafish larvae over extended periods. We show that BAPs from larvae experiencing epileptic seizures or drug-induced side effects have substantially reduced complexity (entropy), similar to reduced LFP complexity observed in Parkinson's disease. To determine whether drugs that enhance BAP complexity produces positive outcomes, we used light pulses to trigger seizures in a model of Dravet syndrome, an intractable genetic epilepsy. The highest-ranked compounds identified by BAP analysis exhibit far greater anti-seizure efficacy and fewer side effects during subsequent in-depth behavioral assessment. This high correlation with behavioral outcomes illustrates the power of brain activity pattern-based screens and identifies novel therapeutic candidates with minimal side effects.
[Mh] Termos MeSH primário: Encéfalo/fisiopatologia
Fenômenos Eletrofisiológicos
Psicotrópicos/farmacologia
Peixe-Zebra/fisiologia
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Eletrofisiologia/métodos
Epilepsias Mioclônicas/diagnóstico
Epilepsias Mioclônicas/fisiopatologia
Seres Humanos
Larva/efeitos dos fármacos
Larva/genética
Larva/fisiologia
Psicotrópicos/toxicidade
Peixe-Zebra/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Psychotropic Drugs)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180117
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-02404-4


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[PMID]:28745672
[Au] Autor:Grebenyuk OV; Kazennykh TV; Alifirova VM; Svetlik MV; Bokhan NA
[Ad] Endereço:Siberian State Medical University, Tomsk, Russia.
[Ti] Título:[Gender aspects of medico-social adaptation in adults with early onset of epilepsy].
[Ti] Título:Gendernye aspekty mediko-sotsial'noi adaptatsii u vzroslykh pri rannem debiute épilepsii..
[So] Source:Zh Nevrol Psikhiatr Im S S Korsakova;117(6):53-58, 2017.
[Is] ISSN:1997-7298
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:AIM: To study the relationship between indicators of clinical picture and social adaptation in idiopathic and symptomatic epilepsies with onset before adulthood depending on patient's gender. MATERIAL AND METHODS: The cross-sectional study was carried out. The study group included 212 women and 171 men, aged 24-60 years, with confirmed diagnosis of epilepsy with onset before 18 years. Seventy-three patients were diagnosed with symptomatic epilepsy, 310 with idiopathic epilepsy. In 120 patients, the frequency of seizures was rarer than once a year. All patients had secondary education and were on treatment with antiepileptic drugs. RESULTS AND CONCLUSION: In symptomatic epilepsy with early onset, gender differences in family and educational status were not identified. Regardless of gender, patients with myoclonus had higher education more frequently than patients with absence and tonic-clonic seizures. Patients with the combination of different types of seizures, irrespective from etiology and gender, had secondary education more frequently. Women with rare generalized seizures more frequently had higher education and were married. Unmarried men with rare generalized seizures lived separately from their relatives more frequently. To author's opinion, the contradiction in indicators of social adaptation in men with rare generalized seizures, to the great extent, is related to the phenomenon of self-stigmatization than to the influence of disease. The results can be used in rehabilitation of patients with idiopathic epilepsy syndromes.
[Mh] Termos MeSH primário: Epilepsias Mioclônicas/psicologia
Epilepsia Generalizada/psicologia
Ajustamento Social
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Anticonvulsivantes/uso terapêutico
Estudos Transversais
Escolaridade
Epilepsias Mioclônicas/tratamento farmacológico
Epilepsia Generalizada/tratamento farmacológico
Feminino
Seres Humanos
Masculino
Meia-Idade
Fatores Sexuais
Síndrome
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.17116/jnevro20171176153-58


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[PMID]:28880996
[Au] Autor:Steel D; Symonds JD; Zuberi SM; Brunklaus A
[Ad] Endereço:The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom.
[Ti] Título:Dravet syndrome and its mimics: Beyond SCN1A.
[So] Source:Epilepsia;58(11):1807-1816, 2017 Nov.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about phenotypic similarities and differences. We discuss whether these are best thought of as minority causes of DS, or as similar but distinct conditions. METHODS: Based on a review of literature, a list of genes linked to DS was compiled and PubMed was searched for reports of DS-like phenotypes arising from variants in each. Online Mendelian Inheritance in Man (OMIM) was used to identify further reports relevant to each gene. RESULTS: Genes that have been reported to cause DS-like phenotypes include SCN2A, SCN8A, SCN9A, SCN1B, PCDH19, GABRA1, GABRG2, STXBP1, HCN1, CHD2, and KCNA2. Many of these genes, however, appear to be associated with their own, different, clinical picture. Other candidate genes for DS have been reported, but there is currently an insufficient body of literature to support their causative role. SIGNIFICANCE: Although most cases of DS arise from SCN1A variants, numerous other genes cause encephalopathies that are clinically similar. Increasingly, a tendency is noted to define newly described epileptic disorders primarily in genetic terms, with clinical features being linked to genotypes. As genetic diagnosis becomes more readily available, its potential to guide pathophysiologic understanding and therapeutic strategy cannot be ignored. Clinical assessment remains essential; the challenge now is to develop a gene-based taxonomy that complements traditional syndromic classifications, allowing elements of both to inform new approaches to treatment.
[Mh] Termos MeSH primário: Epilepsias Mioclônicas/diagnóstico
Epilepsias Mioclônicas/genética
Mutação/genética
Canal de Sódio Disparado por Voltagem NAV1.1/genética
[Mh] Termos MeSH secundário: Seres Humanos
Canal de Sódio Disparado por Voltagem NAV1.2/genética
Canal de Sódio Disparado por Voltagem NAV1.6/genética
Fenótipo
Receptores de GABA-A/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (GABRA1 protein, human); 0 (NAV1.1 Voltage-Gated Sodium Channel); 0 (NAV1.2 Voltage-Gated Sodium Channel); 0 (NAV1.6 Voltage-Gated Sodium Channel); 0 (Receptors, GABA-A); 0 (SCN1A protein, human); 0 (SCN2A protein, human); 0 (SCN8A protein, 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:170908
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13889


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[PMID]:28816426
[Au] Autor:Tang R; Fang F
[Ad] Endereço:Bishan Hospital, Chongqing, China
[Ti] Título:Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
[So] Source:N Engl J Med;377(7):699, 2017 08 17.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Canabidiol
Convulsões
[Mh] Termos MeSH secundário: Epilepsias Mioclônicas
Seres Humanos
[Pt] Tipo de publicação:LETTER; COMMENT
[Nm] Nome de substância:
19GBJ60SN5 (Cannabidiol)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1708349


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[PMID]:28813226
[Au] Autor:Devinsky O; Cross JH; Wright S
[Ad] Endereço:New York University School of Medicine, New York, NY od4@nyu.edu
[Ti] Título:Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
[So] Source:N Engl J Med;377(7):699-700, 2017 08 17.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Canabidiol
Convulsões
[Mh] Termos MeSH secundário: Anticonvulsivantes
Epilepsias Mioclônicas
Seres Humanos
[Pt] Tipo de publicação:LETTER; COMMENT
[Nm] Nome de substância:
0 (Anticonvulsants); 19GBJ60SN5 (Cannabidiol)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170817
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1708349


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[PMID]:28794249
[Au] Autor:Sadleir LG; Mountier EI; Gill D; Davis S; Joshi C; DeVile C; Kurian MA; Mandelstam S; Wirrell E; Nickels KC; Murali HR; Carvill G; Myers CT; Mefford HC; Scheffer IE; DDD Study
[Ad] Endereço:From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Chil
[Ti] Título:Not all epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
[So] Source:Neurology;89(10):1035-1042, 2017 Sep 05.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To define a distinct developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent missense mutation, p.Thr226Met. The remaining child had the missense mutation p.Pro1345Ser. The mutation arose de novo in 8 of 9; for the remaining case, the mother was negative and the father was unavailable. CONCLUSIONS: Here, we present a phenotype-genotype correlation for . We describe a distinct phenotype, early infantile encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met.
[Mh] Termos MeSH primário: Deficiências do Desenvolvimento/genética
Epilepsia/genética
Hipercinese/genética
Mutação de Sentido Incorreto
Canal de Sódio Disparado por Voltagem NAV1.1/genética
[Mh] Termos MeSH secundário: Idade de Início
Encéfalo/diagnóstico por imagem
Encéfalo/fisiopatologia
Criança
Pré-Escolar
Deficiências do Desenvolvimento/diagnóstico por imagem
Deficiências do Desenvolvimento/fisiopatologia
Epilepsias Mioclônicas/genética
Epilepsias Mioclônicas/fisiopatologia
Epilepsia/diagnóstico por imagem
Epilepsia/fisiopatologia
Feminino
Seres Humanos
Hipercinese/diagnóstico por imagem
Hipercinese/fisiopatologia
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.1 Voltage-Gated Sodium Channel); 0 (SCN1A protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170811
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004331


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[PMID]:28738275
[Au] Autor:Yang Z; Xue J; Li H; Qian P; Liu X; Jiang Y; Zhang Y
[Ad] Endereço:Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address: zhixian.yang@163.com.
[Ti] Título:Early childhood myoclonic epilepsy: An independent genetic generalized epilepsy with myoclonic seizures as the main seizure type.
[So] Source:Clin Neurophysiol;128(9):1656-1663, 2017 Sep.
[Is] ISSN:1872-8952
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification. METHODS: Forty-two children were retrospectively recruited between January 2006 and June 2015. RESULTS: The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences. Interictal EEG showed generalized spike- or polyspike-wave discharges at 2-4Hz. Seizures were controlled in 22 patients at a mean age of 60.5months. The psychomotor development was normal (30/37) or mildly delayed (7/37). CONCLUSIONS: We reported a cohort of patients with early childhood myoclonic epilepsy (ECME), with the following characteristics: Seizures started below 5years old in otherwise normal children; Seizure types included myoclonic seizures alone or combined with GTCS and/or absences; Febrile or afebrile GTCS might appear firstly; Interictal EEG showed generalized spike- or polyspike-wave; Seizures usually were in remission before adolescence with normal development or mild cognitive or behavioral deficits in most. SIGNIFICANCE: ECME might be an independent epileptic syndrome not established by International League Against Epilepsy (ILAE) previously.
[Mh] Termos MeSH primário: Eletroencefalografia
Epilepsias Mioclônicas/diagnóstico
Epilepsias Mioclônicas/fisiopatologia
Epilepsia Generalizada/diagnóstico
Epilepsia Generalizada/fisiopatologia
[Mh] Termos MeSH secundário: Pré-Escolar
Estudos de Coortes
Eletroencefalografia/métodos
Epilepsias Mioclônicas/genética
Epilepsia Generalizada/genética
Feminino
Seres Humanos
Lactente
Masculino
Mioclonia/diagnóstico
Mioclonia/fisiopatologia
Estudos Retrospectivos
[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:170725
[St] Status:MEDLINE


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[PMID]:28686619
[Au] Autor:Hammer MF; Ishii A; Johnstone L; Tchourbanov A; Lau B; Sprissler R; Hallmark B; Zhang M; Zhou J; Watkins J; Hirose S
[Ad] Endereço:ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America.
[Ti] Título:Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
[So] Source:PLoS One;12(7):e0180485, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary mutation, suggesting that clinical outcome is modulated by variants at other genes. To identify modifier gene variants that contribute to clinical outcome, we sequenced the exomes of 22 individuals at both ends of a phenotype distribution (i.e., mild and severe cognitive condition). We controlled for variation associated with different mutation types by limiting inclusion to individuals with a de novo truncation mutation resulting in SCN1A haploinsufficiency. We performed tests aimed at identifying 1) single common variants that are enriched in either phenotypic group, 2) sets of common or rare variants aggregated in and around genes associated with clinical outcome, and 3) rare variants in 237 candidate genes associated with neuronal excitability. While our power to identify enrichment of a common variant in either phenotypic group is limited as a result of the rarity of mild phenotypes in individuals with SCN1A truncation variants, our top candidates did not map to functional regions of genes, or in genes that are known to be associated with neurological pathways. In contrast, we found a statistically-significant excess of rare variants predicted to be damaging and of small effect size in genes associated with neuronal excitability in severely affected individuals. A KCNQ2 variant previously associated with benign neonatal seizures is present in 3 of 12 individuals in the severe category. To compare our results with the healthy population, we performed a similar analysis on whole exome sequencing data from 70 Japanese individuals in the 1000 genomes project. Interestingly, the frequency of rare damaging variants in the same set of neuronal excitability genes in healthy individuals is nearly as high as in severely affected individuals. Rather than a single common gene/variant modifying clinical outcome in SCN1A-related epilepsies, our results point to the cumulative effect of rare variants with little to no measurable phenotypic effect (i.e., typical genetic background) unless present in combination with a disease-causing truncation mutation in SCN1A.
[Mh] Termos MeSH primário: Epilepsias Mioclônicas/genética
Epilepsia/genética
Estudo de Associação Genômica Ampla
Canal de Sódio Disparado por Voltagem NAV1.1/genética
[Mh] Termos MeSH secundário: Alelos
Epilepsias Mioclônicas/fisiopatologia
Epilepsia/fisiopatologia
Exoma/genética
Feminino
Genes Modificadores/genética
Genótipo
Haploinsuficiência/genética
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Mutação
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.1 Voltage-Gated Sodium Channel); 0 (SCN1A protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170708
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180485


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[PMID]:28586508
[Au] Autor:Huang X; Zhou C; Tian M; Kang JQ; Shen W; Verdier K; Pimenta A; MacDonald RL
[Ad] Endereço:The Graduate Program of Neuroscience, Vanderbilt University Medical Center, Nashville, Tennessee, U.S.A.
[Ti] Título:Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2 Dravet syndrome mice.
[So] Source:Epilepsia;58(8):1451-1461, 2017 Aug.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The mutant γ-aminobutyric acid type A (GABA ) receptor γ2(Q390X) subunit (Q351X in the mature peptide) has been associated with the epileptic encephalopathy, Dravet syndrome, and the epilepsy syndrome genetic epilepsy with febrile seizures plus (GEFS+). The mutation generates a premature stop codon that results in translation of a stable truncated and misfolded γ2 subunit that accumulates in neurons, forms intracellular aggregates, disrupts incorporation of γ2 subunits into GABA receptors, and affects trafficking of partnering α and ß subunits. Heterozygous Gabrg2 knock-in (KI) mice had reduced cortical inhibition, spike wave discharges on electroencephalography (EEG), a lower seizure threshold to the convulsant drug pentylenetetrazol (PTZ), and spontaneous generalized tonic-clonic seizures. In this proof-of-principal study, we attempted to rescue these deficits in KI mice using a γ2 subunit gene (GABRG2) replacement therapy. METHODS: We introduced the GABRG2 allele by crossing Gabrg2 KI mice with bacterial artificial chromosome (BAC) transgenic mice overexpressing HA (hemagglutinin)-tagged human γ2 subunits, and compared GABA receptor subunit expression by Western blot and immunohistochemical staining, seizure threshold by monitoring mouse behavior after PTZ-injection, and thalamocortical inhibition and network oscillation by slice recording. RESULTS: Compared to KI mice, adult mice carrying both mutant allele and transgene had increased wild-type γ2 and partnering α1 and ß2/3 subunits, increased miniature inhibitory postsynaptic current (mIPSC) amplitudes recorded from layer VI cortical neurons, reduced thalamocortical network oscillations, and higher PTZ seizure threshold. SIGNIFICANCE: Based on these results we suggest that seizures in a genetic epilepsy syndrome caused by epilepsy mutant γ2(Q390X) subunits with dominant negative effects could be rescued potentially by overexpression of wild-type γ2 subunits.
[Mh] Termos MeSH primário: Epilepsias Mioclônicas/genética
Epilepsias Mioclônicas/terapia
Mutação/genética
Subunidades Proteicas/metabolismo
Receptores de GABA-A/genética
Receptores de GABA-A/metabolismo
[Mh] Termos MeSH secundário: Potenciais de Ação/efeitos dos fármacos
Potenciais de Ação/genética
Animais
Convulsivantes/toxicidade
Estimulação Elétrica
Seres Humanos
Técnicas In Vitro
Potenciais Pós-Sinápticos Inibidores/efeitos dos fármacos
Potenciais Pós-Sinápticos Inibidores/genética
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Vias Neurais/efeitos dos fármacos
Vias Neurais/fisiologia
Técnicas de Patch-Clamp
Pentilenotetrazol/toxicidade
Subunidades Proteicas/genética
Células Piramidais/efeitos dos fármacos
Células Piramidais/fisiologia
Córtex Somatossensorial/citologia
Tálamo/citologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Convulsants); 0 (GABRG2 protein, human); 0 (Protein Subunits); 0 (Receptors, GABA-A); WM5Z385K7T (Pentylenetetrazole)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13810


  10 / 2641 MEDLINE  
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[PMID]:28556246
[Au] Autor:Calhoun JD; Hawkins NA; Zachwieja NJ; Kearney JA
[Ad] Endereço:Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, U.S.A.
[Ti] Título:Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.
[So] Source:Epilepsia;58(8):e111-e115, 2017 Aug.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dravet syndrome, an early onset epileptic encephalopathy, is most often caused by de novo mutation of the neuronal voltage-gated sodium channel gene SCN1A. Mouse models with deletion of Scn1a recapitulate Dravet syndrome phenotypes, including spontaneous generalized tonic-clonic seizures, susceptibility to seizures induced by elevated body temperature, and elevated risk of sudden unexpected death in epilepsy. Importantly, the epilepsy phenotype of Dravet mouse models is highly strain-dependent, suggesting a strong influence of genetic modifiers. We previously identified Cacna1g, encoding the Cav3.1 subunit of the T-type calcium channel family, as an epilepsy modifier in the Scn2a transgenic epilepsy mouse model. In this study, we asked whether transgenic alteration of Cacna1g expression modifies severity of the Scn1a Dravet phenotype. Scn1a mice with decreased Cacna1g expression showed partial amelioration of disease phenotypes with improved survival and reduced spontaneous seizure frequency. However, reduced Cacna1g expression did not alter susceptibility to hyperthermia-induced seizures. Transgenic elevation of Cacna1g expression had no effect on the Scn1a epilepsy phenotype. These results provide support for Cacna1g as a genetic modifier in a mouse model of Dravet syndrome and suggest that Cav3.1 may be a potential molecular target for therapeutic intervention in patients.
[Mh] Termos MeSH primário: Canais de Cálcio Tipo T/genética
Epilepsias Mioclônicas/genética
Mutação/genética
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Canais de Cálcio Tipo T/metabolismo
Modelos Animais de Doenças
Eletroencefalografia
Epilepsias Mioclônicas/complicações
Epilepsias Mioclônicas/etiologia
Febre/complicações
Seres Humanos
Camundongos
Camundongos Endogâmicos C57BL
RNA Mensageiro/metabolismo
Gravação em Vídeo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CACNA1G protein, human); 0 (Calcium Channels, T-Type); 0 (RNA, Messenger)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170531
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13811



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