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Fig. 1 | Molecular Medicine

Fig. 1

From: Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Fig. 1

Schematic drawing of SCN2A indicating the location of studied pathogenic variants. The three patients with ID without seizures carried de novo heterozygous variants in SCN2A (shown in blue), two of which are nonsense variants (p.L611Vfs*35 and p.W1716*) and one is a missense variant in the pore-forming loop of domain 2 of the channel (p.R937C). The two patients with early onset EE harbored de novo heterozygous missense variants (shown in red) in the fifth transmembrane segment of the third channel domain (p.L1342P) or the C-terminal domain (p.E1803G), respectively. The heterozygous inherited missense variant previously reported by others in a family with BFNIE (Heron et al. 2002) (shown in green) is located in the second transmembrane segment of domain 4 (p.L1563V). Adapted from Meisler and Kearney (2005)

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Molecular Medicine

ISSN: 1528-3658