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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-30548380
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Carrier Proteins / Genetic Predisposition to Disease / Epilepsy / Genetic Association Studies / Microfilament Proteins Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Carrier Proteins / Genetic Predisposition to Disease / Epilepsy / Genetic Association Studies / Microfilament Proteins Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Country of publication: United States