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Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
de Lange, Iris M; Koudijs, Marco J; van 't Slot, Ruben; Gunning, Boudewijn; Sonsma, Anja C M; van Gemert, Lisette J J M; Mulder, Flip; Carbo, Ellen C; van Kempen, Marjan J A; Verbeek, Nienke E; Nijman, Isaac J; Ernst, Robert F; Savelberg, Sanne M C; Knoers, Nine V A M; Brilstra, Eva H; Koeleman, Bobby P C.
Afiliação
  • de Lange IM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Koudijs MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • van 't Slot R; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Gunning B; The Epilepsy Institutes of the Netherlands Foundation (SEIN).
  • Sonsma ACM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • van Gemert LJJM; Epilepsy Center Kempenhaeghe, Heeze, the Netherlands.
  • Mulder F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Carbo EC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • van Kempen MJA; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Verbeek NE; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Nijman IJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Ernst RF; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Savelberg SMC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Knoers NVAM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Brilstra EH; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Koeleman BPC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
Epilepsia ; 59(3): 690-703, 2018 03.
Article em En | MEDLINE | ID: mdl-29460957
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.1 / Mosaicismo Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Epilepsia Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.1 / Mosaicismo Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Epilepsia Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos