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Paper Details

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Am J Med Genet A
15
2018
C, SPTAN1, SPTAN1 encephalopathy, SPTAN1 variant, SPTAN1 variants, abnormal thyroid function, children, donor acceptor site, epilepsy, exon 21, exon 50, fine and gross motor impairments, hypoplastic brain structures, intellectual disability, intronic, mRNA, non-erythrocytic alpha-II-spectrin, non-erythrocytic alpha-II-spectrin (SPTAN1) gene, patient, patients
Author NameAffiliation
Thomas C MarkelloOffice of the Clinical Director, and NIH Undiagnosed Diseases Program, National Institutes of Health
Ellen MacnamaraOffice of the Clinical Director, and NIH Undiagnosed Diseases Program, National Institutes of Health
Lisa JosephOffice of the Clinical Director, National Institute of Mental Health, National Institutes of Health
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Jeremy D SchmahmannMassachusetts General Hospital and Harvard Medical School
Cynthia J TifftOffice of the Clinical Director, and NIH Undiagnosed Diseases Program, National Institutes of Health
Cynthia J TifftOffice of the Clinical Director, and NIH Undiagnosed Diseases Program, National Institutes of Health
William A GahlOffice of the Clinical Director, and NIH Undiagnosed Diseases Program, National Institutes of Health
William A GahlOffice of the Clinical Director, and NIH Undiagnosed Diseases Program, National Institutes of Health
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