Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

Authors

Adeline Vanderver, George Washington University
Cas Simons, University of QueenslandFollow
Johanna L. Schmidt, Children's National Medical Center
Phillip L. Pearl, George Washington UniversityFollow
Miriam Bloom, George Washington University
Bennett Lavenstein, George Washington University
David Miller, Children's National Medical Center
Sean M. Grimmond, University of QueenslandFollow
Ryan J. Taft, University of QueenslandFollow

Document Type

Journal Article

Publication Date

1-2013

Journal

Pediatric Neurology

Volume

Volume 50, Issue 1

Inclusive Pages

112-114

Keywords

Epilepsy--complications; Epilepsy--genetics; Leukoencephalopathies--complications; Leukoencephalopathies--genetics; Mutation--genetics; Nerve Tissue Proteins--genetics; Potassium Channels--genetics

APA Citation

Vanderver, A., Simons, C., Schmidt, J.L., Pearl, P.L. Bloom, M. et al. (2014). Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatric Neurology, 50(1), 112-114.

Peer Reviewed

1