De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven.

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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven Lagae, Christine Van Broeckhoven, Peter De Jonghe The American Journal of Human Genetics Volume 68, Issue 6, Pages 1327-1332 (June 2001) DOI: 10.1086/320609 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Organization of SCN1A. The neuronal voltage-gated sodium-channel α-subunit SCN1A is a monomer and consists of four homologous domains (DI–DIV). Each domain has six transmembrane segments (S1–S6). S4 has several positively charged amino acids and represents the voltage sensor. P = the pore loop, which delineates the pore of the channel. Mutations identified in this study (described in table 2) were denoted as follows: asterisks (*) = deletion, insertion and nonsense mutations; diamond (♦) = missense mutation; circles (○) = GEFS+ missense mutations reported by Escayg et al. (2000, 2001); and squares (▪) = GEFS+ missense mutations reported by Wallace et al (2001). The American Journal of Human Genetics 2001 68, 1327-1332DOI: (10.1086/320609) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Chromatograms of the SCN1A mutations in comparison with SCN1A wild-type sequences. Exonic sequences are in uppercase; intronic sequences are in lowercase. The American Journal of Human Genetics 2001 68, 1327-1332DOI: (10.1086/320609) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Evolutionary conservation of SCN1A. Sequence alignment and evolutionary conservation of the 986L residue (boxed). The American Journal of Human Genetics 2001 68, 1327-1332DOI: (10.1086/320609) Copyright © 2001 The American Society of Human Genetics Terms and Conditions