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Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Gartner, Valerie; Markello, Thomas C; Macnamara, Ellen; De Biase, Andrea; Thurm, Audrey; Joseph, Lisa; Beggs, Alan; Schmahmann, Jeremy D; Berry, Gerard T; Anselm, Irina; Boslet, Emma; Tifft, Cynthia J; Gahl, William A; Lee, Paul R.
Afiliação
  • Gartner V; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Markello TC; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Macnamara E; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • De Biase A; RainDance Technologies, Inc., Billerica, Massachusetts.
  • Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
  • Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
  • Beggs A; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Schmahmann JD; Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
  • Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Anselm I; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Boslet E; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Tifft CJ; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Gahl WA; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Lee PR; Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A ; 176(12): 2768-2776, 2018 12.
Article em En | MEDLINE | ID: mdl-30548380
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Proteínas de Transporte / Predisposição Genética para Doença / Epilepsia / Estudos de Associação Genética / Proteínas dos Microfilamentos Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Proteínas de Transporte / Predisposição Genética para Doença / Epilepsia / Estudos de Associação Genética / Proteínas dos Microfilamentos Idioma: En Ano de publicação: 2018 Tipo de documento: Article