Publications:

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Epilepsia

Veeramah, Krishna R KR; Johnstone, Laurel L; Karafet, Tatiana M TM; Wolf, Daniel D; Sprissler, Ryan R; Salogiannis, John J; Barth-Maron, Asa A; Greenberg, Michael E ME; Stuhlmann, Till T; Weinert, Stefanie S; Jentsch, Thomas J TJ; Pazzi, Marjorie M; Restifo, Linda L LL; Talwar, Dinesh D; Erickson, Robert P RP; Hammer, Michael F MF

Publication Date: 2013-07

Variant appearance in text: SCN1A: Arg612Cys

PubMed Link: 23647072

Variant Present in the following documents:

• Main text

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