SCN1A mutational analysis in Korean patients with Dravet syndrome Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ji-Eun Choi, Yong Seung Hwang, Seong-Ho Kang, Chang-Seok Ki, Ki Joong Kim  Seizure - European Journal of Epilepsy  Volume 20, Issue 10, Pages 789-794 (December 2011) DOI: 10.1016/j.seizure.2011.08.002 Copyright © 2011 British Epilepsy Association Terms and Conditions

Fig. 1 Family study of three patients with novel SCN1A mutations. (A) c.4216G>A (p.Ala1406Thr) mutation in patient 13. The father, who exhibited clinical features of idiopathic generalized epilepsy, harbored the same mutation. (B) c.4296delA (p.Phe1432LeufsX6) mutation in patient 1. The mildly affected father may be a mosaic for the same mutation found in the patient. (C) c.3160C>T (p.Gln1036X) mutation in patient 3. The elder sister was diagnosed with childhood absence epilepsy; however, she did not carry a mutation in SCN1A. Seizure - European Journal of Epilepsy 2011 20, 789-794DOI: (10.1016/j.seizure.2011.08.002) Copyright © 2011 British Epilepsy Association Terms and Conditions

Seizure - European Journal of Epilepsy 2011 20, 789-794DOI: (10.1016/j.seizure.2011.08.002) Copyright © 2011 British Epilepsy Association Terms and Conditions

Seizure - European Journal of Epilepsy 2011 20, 789-794DOI: (10.1016/j.seizure.2011.08.002) Copyright © 2011 British Epilepsy Association Terms and Conditions