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[PMID]:28738335
[Au] Autor:Bellucco FT; Nunes N; Colovati MES; Malinverni ACM; Caneloi TP; Soares MF; A Perez AB; Melaragno MI
[Ad] Endereço:Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
[Ti] Título:Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome.
[So] Source:Cytogenet Genome Res;152(1):29-32, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Miller-Dieker syndrome (MDS) is a contiguous gene deletion syndrome in which almost all patients present de novo 17p13.3 deletions. We report on a male infant with MDS and an unusual unbalanced translocation involving chromosomes Y and 17 that resulted in a large 5.5-Mb 17pterp13.2 deletion and a karyotype with 45 chromosomes. Apart from the deletion of the MDS critical region, the deletion of additional distal genes seemed to have no major influence on the patient's phenotype, since he did not show any unusual clinical findings that are not commonly described in MDS patients.
[Mh] Termos MeSH primário: Pareamento de Bases/genética
Deleção Cromossômica
Cromossomos Humanos Par 17/genética
Cromossomos Humanos Y/genética
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética
Translocação Genética
[Mh] Termos MeSH secundário: Análise Citogenética
Seres Humanos
Lactente
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170725
[St] Status:MEDLINE
[do] DOI:10.1159/000477920


  2 / 124 MEDLINE  
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[PMID]:28186603
[Au] Autor:Lin S; Luo Y; Wu J; Chen B; Ji Y; Zhou Y
[Ad] Endereço:Fetal Medicine Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080,China. zhouyifm@163.com.
[Ti] Título:[Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(1):89-92, 2017 Feb 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation. METHODS: G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software. RESULTS: G-banded karyotyping failed to detect any abnormalities in both fetuses and their parents. SNP array detected a 2.484 Mb terminal deletion at 17p13.3 [arr[hg19] 17p13.3 (83 035-2 567 405)×1] in fetus 1 and a 3.295 Mb terminal deletion at 17p13.3p13.2 [arr[hg19] 17p13.3p13.2 (83 035- 3 377 560)×1] in fetus 2. Both deletions have overlapped with the critical region of Miller-Dieker syndrome (MDS) and involved candidate genes such as PAFAH1B1, YWHAE and CRK. In addition, SNP array and FISH analyses on the parental peripheral blood samples demonstrated that both 17p13.3 and 17p13.3p13.2 deletions were of de novo origin. Metaphase FISH performed on amniotic fluid cells confirmed the presence of 17p13.3 and 17p13.3p13.2 deletions detected by the SNP array, while metaphase FISH performed on the parents excluded any potential chromosome rearrangements. CONCLUSION: Abnormal ultrasound features for fetuses with MDS mainly include central nervous system anomalies. SNP array can efficiently detect 17p13.3 microdeletions underlying MDS, and accurately map the breakpoints and involved genes, which may facilitate understanding of the genotype and phenotype correlations for MDS.
[Mh] Termos MeSH primário: Deleção Cromossômica
Cromossomos Humanos Par 17/genética
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética
Doenças Fetais/genética
Ultrassonografia Pré-Natal/métodos
[Mh] Termos MeSH secundário: Bandeamento Cromossômico
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico por imagem
Feminino
Doenças Fetais/diagnóstico por imagem
Estudos de Associação Genética
Predisposição Genética para Doença/genética
Genótipo
Seres Humanos
Hibridização in Situ Fluorescente
Cariotipagem
Fenótipo
Polimorfismo de Nucleotídeo Único
Gravidez
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170211
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.01.021


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[PMID]:28111201
[Au] Autor:Bershteyn M; Nowakowski TJ; Pollen AA; Di Lullo E; Nene A; Wynshaw-Boris A; Kriegstein AR
[Ad] Endereço:Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: mbershteyn@gmail.com.
[Ti] Título:Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia.
[So] Source:Cell Stem Cell;20(4):435-449.e4, 2017 Apr 06.
[Is] ISSN:1875-9777
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Classical lissencephaly is a genetic neurological disorder associated with mental retardation and intractable epilepsy, and Miller-Dieker syndrome (MDS) is the most severe form of the disease. In this study, to investigate the effects of MDS on human progenitor subtypes that control neuronal output and influence brain topology, we analyzed cerebral organoids derived from control and MDS-induced pluripotent stem cells (iPSCs) using time-lapse imaging, immunostaining, and single-cell RNA sequencing. We saw a cell migration defect that was rescued when we corrected the MDS causative chromosomal deletion and severe apoptosis of the founder neuroepithelial stem cells, accompanied by increased horizontal cell divisions. We also identified a mitotic defect in outer radial glia, a progenitor subtype that is largely absent from lissencephalic rodents but critical for human neocortical expansion. Our study, therefore, deepens our understanding of MDS cellular pathogenesis and highlights the broad utility of cerebral organoids for modeling human neurodevelopmental disorders.
[Mh] Termos MeSH primário: Cérebro/patologia
Células-Tronco Pluripotentes Induzidas/patologia
Lisencefalia/patologia
Mitose
Neuroglia/patologia
Organoides/patologia
[Mh] Termos MeSH secundário: Adulto
Apoptose
Movimento Celular
Duplicação Cromossômica
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/patologia
Citocinese
Epitélio/patologia
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Meia-Idade
Neurônios/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171104
[Lr] Data última revisão:
171104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170124
[St] Status:MEDLINE


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[PMID]:27644460
[Au] Autor:Mishima T; Watari M; Iwaki Y; Nagai T; Kawamata-Nakamura M; Kobayashi Y; Fujieda S; Oikawa M; Takahashi N; Keira M; Yoshida H; Tonoki H
[Ad] Endereço:Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
[Ti] Título:Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.
[So] Source:Congenit Anom (Kyoto);57(2):61-63, 2017 Mar.
[Is] ISSN:1741-4520
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker Syndrome postnatally. G banded chromosome analysis revealed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique. Fetal delayed cortical development will be the findings to perform further investigations including fluorescence in situ hybridization analysis for MDS, a 17p13.3 microdeletion syndrome, pre/postnatally. This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome.
[Mh] Termos MeSH primário: Bandeamento Cromossômico/métodos
Cromossomos Humanos Par 17/genética
Cromossomos Humanos X/genética
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico
Doenças Fetais/diagnóstico
Hibridização in Situ Fluorescente/métodos
Translocação Genética/genética
[Mh] Termos MeSH secundário: Adulto
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética
Feminino
Doenças Fetais/genética
Seres Humanos
Recém-Nascido
Masculino
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170314
[Lr] Data última revisão:
170314
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160921
[St] Status:MEDLINE
[do] DOI:10.1111/cga.12193


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[PMID]:27965181
[Au] Autor:Franco A; Pimentel J; Campos AR; Morgado C; Pinelo S; Ferreira AG; Bentes C
[Ad] Endereço:Department of Neurosciences (Neurology), Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon.
[Ti] Título:Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia.
[So] Source:Epileptic Disord;18(4):426-430, 2016 Dec 01.
[Is] ISSN:1950-6945
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:Subcortical band heterotopia is a neuronal migration disorder that may cause refractory epilepsy. In these patients, resective surgery has yielded inadequate results. Deep brain stimulation of the anterior nuclei of the thalamus has been used for the treatment of refractory epilepsy with good results. We describe the first two patients with subcortical band heterotopia who were submitted to deep brain stimulation of the anterior nuclei of the thalamus, with evaluation of seizure outcome after 12 and 18 months of follow-up. At these times, both showed a >50% decrease in seizure frequency and an increase in seizure freedom. Both patients had a depressive syndrome after surgery that responded fully to anti-depressive medication in one patient and partly in the other. In both, deep brain stimulation of the anterior nuclei of the thalamus was associated with good seizure outcome. This procedure can therefore be considered in the treatment of patients with subcortical band heterotopia and refractory epilepsy. Depression may be a transient adverse event of the surgery or stimulation, however, its aetiology is probably multifactorial.
[Mh] Termos MeSH primário: Núcleos Anteriores do Tálamo
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/terapia
Estimulação Encefálica Profunda/métodos
Convulsões/terapia
[Mh] Termos MeSH secundário: Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/complicações
Estimulação Encefálica Profunda/efeitos adversos
Depressão/etiologia
Seres Humanos
Convulsões/etiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170314
[Lr] Data última revisão:
170314
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161215
[St] Status:MEDLINE
[do] DOI:10.1684/epd.2016.0878


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[PMID]:27633569
[Au] Autor:Henry RK; Astbury C; Stratakis CA; Hickey SE
[Ad] Endereço:Division of Endocrinology, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, 43205, USA. Electronic address: rohan.henry@nationwidechildrens.org.
[Ti] Título:17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.
[So] Source:Eur J Med Genet;59(10):512-6, 2016 Oct.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:17p13.3 microduplications classified as class I duplications involving YWHAE but not PAFAH1B1 (formerly LIS1) and class II duplications which extend to involve PAFAH1B1, are associated with diverse phenotypes including intellectual disability and structural brain malformations. We report a girl with an approximately 1.58 Mb apparently terminal gain of 17p13.3, which contains more than 20 genes including the YWHAE and CRK genes (OMIM: 164762). She had increased growth factors accompanied by pathologic tall stature. In addition to these, she developed central precocious puberty at 7 years old. In individuals with class I 17p13.3 microduplications including CRK, we recommend biochemical evaluation of the growth hormone axis. Providers caring for these patients should be aware of their possible risk for the development of central precocious puberty.
[Mh] Termos MeSH primário: Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética
Deficiência Intelectual/genética
Proteínas Proto-Oncogênicas c-crk/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Duplicação Cromossômica/genética
Cromossomos Humanos Par 17
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/complicações
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/fisiopatologia
Feminino
Hormônio do Crescimento/genética
Hormônio do Crescimento/metabolismo
Seres Humanos
Deficiência Intelectual/fisiopatologia
Peptídeos e Proteínas de Sinalização Intercelular/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CRK protein, human); 0 (Intercellular Signaling Peptides and Proteins); 0 (Proto-Oncogene Proteins c-crk); 9002-72-6 (Growth Hormone)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171001
[Lr] Data última revisão:
171001
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160917
[St] Status:MEDLINE


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[PMID]:27381655
[Au] Autor:Kobayashi Y; Magara S; Okazaki K; Komatsubara T; Saitsu H; Matsumoto N; Kato M; Tohyama J
[Ad] Endereço:Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Japan. Electronic address: u-kb@masa.go.jp.
[Ti] Título:Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation.
[So] Source:Brain Dev;38(10):950-953, 2016 Nov.
[Is] ISSN:1872-7131
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. The heterotopias exhibited inhomogeneous signals with undulatory mixtures of gray and white matter, resembling ribbon-like heterotopia, with a predominance in the temporal to occipital regions. These neuroradiological findings were not consistent with those in known megalencephalic polymicrogyria syndromes. No genetic abnormality was identified through whole-exome sequencing. The neuroimaging findings of this patient may represent a novel cortical malformation involving megalencephaly with polymicrogyria and ribbon-like band heterotopia.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico por imagem
Megalencefalia/diagnóstico por imagem
Polimicrogiria/diagnóstico por imagem
[Mh] Termos MeSH secundário: Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética
Feminino
Técnicas de Genotipagem
Seres Humanos
Lactente
Imagem por Ressonância Magnética
Megalencefalia/genética
Análise em Microsséries
Polimicrogiria/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170213
[Lr] Data última revisão:
170213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160707
[St] Status:MEDLINE


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[PMID]:27292316
[Au] Autor:Tsai MH; Kuo PW; Myers CT; Li SW; Lin WC; Fu TY; Chang HY; Mefford HC; Chang YC; Tsai JW
[Ad] Endereço:Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; Department of Nursing, Meiho University, Taiwan.
[Ti] Título:A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
[So] Source:Eur J Paediatr Neurol;20(5):788-94, 2016 Sep.
[Is] ISSN:1532-2130
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To study the genetics and functional alteration of a family with X-linked lissencephaly and subcortical band heterotopia. METHODS: Five affected patients (one male with lissencephaly, four female with subcortical band heterotopia) and their relatives were studied. Sanger sequencing of DCX gene, allele specific PCR and molecular inversion probe technique were performed. Mutant and wild type of the gene products, namely doublecortin, were expressed in cells followed by immunostaining to explore the localization of doublecortin and microtubules in cells. In vitro microtubule-binding protein spin-down assay was performed to quantify the binding ability of doublecortin to microtubules. KEY FINDINGS: We identified a novel DCX mutation c.785A > G, p.Asp262Gly that segregated with the affected members of the family. Allele specific PCR and molecular inversion probe technique demonstrated that the asymptomatic female carrier had an 8% mutant allele fraction in DNA derived from peripheral leukocytes. This mother had 7 children, 4 of whom were affected and all four affected siblings carried the mutation. Functional study showed that the mutant doublecortin protein had a significant reduction of its ability to bind microtubules. SIGNIFICANCE: Low level mosaicism could be a cause of inherited risk from asymptomatic parents for DCX related lissencephaly-subcortical band heterotopia spectrum. This is particularly important in terms of genetic counselling for recurrent risk of future pregnancies. The reduced binding affinity of mutant doublecortin may contribute to developmental malformation of the cerebral cortex.
[Mh] Termos MeSH primário: Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética
Proteínas Associadas aos Microtúbulos/genética
Neuropeptídeos/genética
[Mh] Termos MeSH secundário: Adulto
Criança
DNA/genética
Feminino
Genótipo
Seres Humanos
Masculino
Mosaicismo
Mutação de Sentido Incorreto
Pais
Linhagem
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Microtubule-Associated Proteins); 0 (Neuropeptides); 0 (doublecortin protein); 9007-49-2 (DNA)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160614
[St] Status:MEDLINE


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[PMID]:27084218
[Au] Autor:Ishii J; Yuki N; Kawamoto M; Yoshimura H; Kusunoki S; Kohara N
[Ad] Endereço:Department of Neurology, Kobe City Medical Center General Hospital, Japan. Electronic address: ishii-j@kcho.jp.
[Ti] Título:Recurrent Guillain-Barré syndrome, Miller Fisher syndrome and Bickerstaff brainstem encephalitis.
[So] Source:J Neurol Sci;364:59-64, 2016 May 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Guillain-Barré syndrome (GBS), Miller Fisher syndrome (MFS), and Bickerstaff brainstem encephalitis (BBE) are usually monophasic, but some patients experience recurrences after long asymptomatic intervals. We aimed to investigate clinical features of recurrent GBS, MFS, and BBE at a single hospital. METHODS: Records from 97 consecutive patients with GBS, MFS or BBE who were admitted to a tertiary hospital between 2001 and 2013 were reviewed. Clinical and laboratory features of patients with recurrent GBS, MFS, or BBE were investigated. RESULTS: Patients included 55 (32 males) with GBS, 34 (22 males) with MFS, and 8 (6 males) with BBE. Recurrent cases occurred in 2 (4%) of the 55 patients with GBS, 4 (12%) of the 34 patients with MFS, and 2 (25%) of the 8 patients with BBE. Patients with recurrent MFS had a tendency to be younger at the first episode than patients with non-recurrent MFS (median, 22 versus 37years old). Symptoms and signs were less severe during relapses than during the initial episode in recurrent patients. CONCLUSIONS: Recurrences occurred more frequently in patients with MFS or BBE compared with those with GBS. Patients with recurrent MFS might be younger than those with non-recurrent MFS.
[Mh] Termos MeSH primário: Tronco Encefálico/patologia
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda
Encefalite
Síndrome de Guillain-Barré
[Mh] Termos MeSH secundário: Adulto
Anticorpos/sangue
Antígenos CD/imunologia
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/epidemiologia
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/metabolismo
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/fisiopatologia
Encefalite/epidemiologia
Encefalite/metabolismo
Encefalite/fisiopatologia
Feminino
Gangliosídeos/imunologia
Síndrome de Guillain-Barré/epidemiologia
Síndrome de Guillain-Barré/metabolismo
Síndrome de Guillain-Barré/fisiopatologia
Seres Humanos
Masculino
Meia-Idade
Recidiva
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies); 0 (Antigens, CD); 0 (Gangliosides)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170107
[Lr] Data última revisão:
170107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160417
[St] Status:MEDLINE


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[PMID]:26494205
[Au] Autor:Herbst SM; Proepper CR; Geis T; Borggraefe I; Hahn A; Debus O; Haeussler M; von Gersdorff G; Kurlemann G; Ensslen M; Beaud N; Budde J; Gilbert M; Heiming R; Morgner R; Philippi H; Ross S; Strobl-Wildemann G; Muelleder K; Vosschulte P; Morris-Rosendahl DJ; Schuierer G; Hehr U
[Ad] Endereço:Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany. Electronic address: saskia.herbst@ukr.de.
[Ti] Título:LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
[So] Source:Brain Dev;38(4):399-406, 2016 Apr.
[Is] ISSN:1872-7131
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug-resistant epilepsy within the first year. AIM: To analyze the epileptogenic phenotype and response to antiepileptic therapy in LIS1-associated classic lissencephaly. METHOD: Retrospective evaluation of 22 patients (8 months-24 years) with genetically and radiologically confirmed LIS1-associated classic lissencephaly in 16 study centers. RESULTS: All patients in our cohort developed drug-resistant epilepsy. In 82% onset of seizures was noted within the first six months of life, most frequently with infantile spasms. Later in infancy the epileptogentic phenotype became more variable and included different forms of focal seizures as well generalized as tonic-clonic seizures, with generalized tonic-clonic seizures being the predominant type. Lamotrigine and valproate were rated most successful with good or partial response rates in 88-100% of the patients. Both were evaluated significantly better than levetiracetam (p<0.05) and sulthiame (p<0.01) in the neuropediatric assessment and better than levetiracetam, sulthiame (p<0.05) and topiramate (p<0.01) in the family survey. Phenobarbital and vigabatrin achieved good or partial response in 62-83% of the patients. CONCLUSION: Our findings suggest that patients with LIS1-associated lissencephaly might benefit most from lamotrigine, valproate, vigabatrin or phenobarbital.
[Mh] Termos MeSH primário: 1-Alquil-2-acetilglicerofosfocolina Esterase/genética
Anticonvulsivantes/uso terapêutico
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/complicações
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética
Epilepsia Resistente a Medicamentos/tratamento farmacológico
Proteínas Associadas aos Microtúbulos/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Encéfalo/diagnóstico por imagem
Encéfalo/patologia
Encéfalo/fisiopatologia
Criança
Pré-Escolar
Epilepsia Resistente a Medicamentos/complicações
Eletroencefalografia
Feminino
Seres Humanos
Lactente
Masculino
Fenobarbital/uso terapêutico
Fenótipo
Estudos Retrospectivos
Resultado do Tratamento
Triazinas/uso terapêutico
Ácido Valproico/uso terapêutico
Vigabatrina/uso terapêutico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Microtubule-Associated Proteins); 0 (Triazines); 614OI1Z5WI (Valproic Acid); EC 3.1.1.47 (1-Alkyl-2-acetylglycerophosphocholine Esterase); EC 3.1.1.47 (PAFAH1B1 protein, human); GR120KRT6K (Vigabatrin); U3H27498KS (lamotrigine); YQE403BP4D (Phenobarbital)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151024
[St] Status:MEDLINE



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