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

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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 (Nav1.1) protein (see Molecular Pathogenesis) [M Sotero, personal observation].

From: SCN1A Seizure Disorders

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