Publications:

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.

Molecular Syndromology

Syrbe, Steffen S; Zhorov, Boris S BS; Bertsche, Astrid A; Bernhard, Matthias K MK; Hornemann, Frauke F; Mütze, Ulrike U; Hoffmann, Jessica J; Hörtnagel, Konstanze K; Kiess, Wieland W; Hirsch, Franz W FW; Lemke, Johannes R JR; Merkenschlager, Andreas A

Publication Date: 2016-09

Variant appearance in text: SCN1A: F383D

PubMed Link: 27781028

Variant Present in the following documents:

• Main text

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