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. Author manuscript; available in PMC: 2019 Apr 8.
Published in final edited form as: Epilepsia. 2018 Mar 30;59(4):e56–e62. doi: 10.1111/epi.14055

Figure 2.

Figure 2.

Model of SCN1A protein and predicted pathogenic variants seen in two cases of SIDS. Case 1: c.2045G>T, p.Gly682Val. Case 2: c.3886T>A, Leu1296Met and c. 3924A>T, Glu1308Asp (present in cis configuration). Pathologic variants in close proximity to G682V, affecting the same transmembrane domain, have been associated with Dravet syndrome (D674G)14 and borderline severe myoclonic epilepsy of infancy, (T685LfsX5)15 and are depicted by dots on the model to show relative position. Previously reported pathologic variants in close proximity to Leu1296 are W1284X and F1289del; the patients were diagnosed with severe myoclonic epilepsy of infancy.16