Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Stockler S, Corvera S, Lambright D, Fogarty K, Nosova E, Leonard D, Steinfeld R, Ackerley C, Shyr C, Au N, Selby K, van Allen M, Vallance H, Wevers R, Watkins D, Rosenblatt D, Ross CJ, Conibear E, Wasserman W, van Karnebeek C.
Stockler S, et al. Among authors: lambright d.
Orphanet J Rare Dis. 2014 Sep 20;9:141. doi: 10.1186/s13023-014-0141-5.
Orphanet J Rare Dis. 2014.
PMID: 25233840
Free PMC article.