Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation
Version of Record online: 16 MAR 2012
Wiley Periodicals, Inc. © 2012 International League Against Epilepsy
Volume 53, Issue 6, pages e106–e110, June 2012
How to Cite
Writzl, K., Primec, Z. R., Stražišar, B. G., Osredkar, D., Pečarič-Meglič, N., Kranjc, B. S., Nishiyama, K., Matsumoto, N. and Saitsu, H. (2012), Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. Epilepsia, 53: e106–e110. doi: 10.1111/j.1528-1167.2012.03437.x
- Issue online: 1 JUN 2012
- Version of Record online: 16 MAR 2012
- Accepted January 27, 2012; Early View publication March 16, 2012.
Figure S1. Genetic analysis. Direct sequence analysis of SPTAN1 revealed a heterozygous c.6619_6621delGAG (p.E2207del) mutation, which occurred de novo, in the patient.
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