Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect.

Authors

Cas SimonsFollow
Laurie B. Griffin
Guy HelmanFollow
Gretchen Golas
Amy Pizzino
Kimberly A. Chapman, George Washington UniversityFollow
Ryan J. Taft, George Washington UniversityFollow
Adeline Vanderver, George Washington University
+13 additional authors

Document Type

Journal Article

Publication Date

4-2-2015

Journal

American Journal of Human Genetics

Volume

Volume 96, Issue 4

Issue

4

Inclusive Pages

675-81

Keywords

Abnormailities, Multiple--genetics; Alanine-tRNA Ligase--genetics; Epilepsy--genetics; Models, Molecular; Myelin Sheath--pathology; Peripheral Nervous System Diseases--genetics; Phenotype

Comments

This is an open access PubMed Central article. Click on link for full-text access.

APA Citation

Simons, C., Griffin, L.B., Helman, G., Golas, G., Pizzino, A., et al. (2015) Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect, The American Journal of Human Genetics, Volume 96, Issue 4, 2 April 2015, Pages 675-681

Peer Reviewed

1

Open Access

1