Figure 1. [Findings in a family illustrating...]. - GeneReviews® - NCBI Bookshelf

Warning: The NCBI web site requires JavaScript to function. more...

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

Cover of GeneReviews®

GeneReviews^® [Internet].

GeneReviews by Title

Figure 1. . Findings in a family illustrating variable expressivity among individuals with the same pathogenic variant.

Figure 1.

Findings in a family illustrating variable expressivity among individuals with the same pathogenic variant. The proband, a boy (arrow) with febrile convulsions since age seven months, had frequent, difficult-to-control partial seizures beginning at age three years. His sister had infrequent partial seizures starting early in school age. Their father had a single seizure as a young adult. All three had the same pathogenic variant in the fourth domain fifth segment (D4S5) on the pore region of the SCN1A (Na_v1.1) protein (see Molecular Pathogenesis) [M Sotero, personal observation].

From: SCN1A Seizure Disorders

Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

GeneReviews by Title

Views

Cite this Page
Miller IO, Sotero de Menezes MA. SCN1A Seizure Disorders. 2007 Nov 29 [Updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 1. [Findings in a family illustrating...].
PDF version of this page (1.1M)

Bulk Download

Bulk download GeneReviews data from FTP

GeneReviews Links

Related information

MedGen
Related information in MedGen
OMIM
Related OMIM records
PMC
PubMed Central citations
PubMed
Links to PubMed
Gene
Locus Links

Similar articles in PubMed

Review KCNT1-Related Epilepsy.[GeneReviews(®). 1993]
Review KCNT1-Related Epilepsy.
Gertler T, Bearden D, Bhattacharjee A, Carvill G. GeneReviews(®). 1993
Review SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders.[GeneReviews(®). 1993]
Review SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders.
Hammer MF, Xia M, Schreiber JM. GeneReviews(®). 1993
Review ATP1A3-Related Neurologic Disorders.[GeneReviews(®). 1993]
Review ATP1A3-Related Neurologic Disorders.
Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L. GeneReviews(®). 1993
Review Glucose Transporter Type 1 Deficiency Syndrome.[GeneReviews(®). 1993]
Review Glucose Transporter Type 1 Deficiency Syndrome.
Wang D, Pascual JM, De Vivo D. GeneReviews(®). 1993
Review DEPDC5-Related Epilepsy.[GeneReviews(®). 1993]
Review DEPDC5-Related Epilepsy.
Baulac S, Baldassari S. GeneReviews(®). 1993

See reviews...See all...

Recent Activity

Clear Turn Off Turn On

Figure 1. [Findings in a family illustrating...]. - GeneReviews®
Figure 1. [Findings in a family illustrating...]. - GeneReviews®
HPRT1 Disorders - GeneReviews®
HPRT1 Disorders - GeneReviews®
Figure 1. [Testing algorithm to establish the diagnosis of isolated GnRH deficie...
Figure 1. [Testing algorithm to establish the diagnosis of isolated GnRH deficiency (IGD) in males]. - GeneReviews®
Figure 2. [JEB generalized intermediate]. - GeneReviews®
Figure 2. [JEB generalized intermediate]. - GeneReviews®
Figure 1. [Common findings of pachyonychia congenita...]. - GeneReviews®
Figure 1. [Common findings of pachyonychia congenita...]. - GeneReviews®

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on