Affiliation: University of Michigan
Wagnon J, Korn M, Parent R, Tarpey T, Jones J, Hammer M, et al
. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet. 2015;24:506-15 pubmed publisher
..Scn8a(N1768D) mutant mice provide a model of epileptic encephalopathy that will be valuable for studying the in vivo effects of hyperactive Nav1.6 and the response to therapeutic interventions. ..
Lenk G, Meisler M. Mouse models of PI(3,5)P2 deficiency with impaired lysosome function. Methods Enzymol. 2014;534:245-60 pubmed publisher
..This review summarizes what has been learned from mouse models and highlights the utility of manipulating complex signaling pathways in vivo. ..
Jones J, Dionne L, Dell Orco J, Parent R, Krueger J, Cheng X, et al
. Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiol Dis. 2016;89:36-45 pubmed publisher
..The clinical phenotype of this severe hypomorphic mutant expands the spectrum of Scn8a disease to include a recessively inherited, chronic and progressive movement disorder. ..
Meisler M, Sprunger L, Plummer N, Escayg A, Jones J. Ion channel mutations in mouse models of inherited neurological disease. Ann Med. 1997;29:569-74 pubmed
..The mouse studies indicate that mutations in ion channel genes are likely to be responsible for a broad spectrum of clinical phenotypes in human neurological disorders. ..
Meisler M, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annu Rev Genet. 2001;35:567-88 pubmed
..The development of pharmaceuticals directed towards specific epilepsy genotypes can be anticipated, and the introduction of patient mutations into the mouse genome will provide models for testing these targeted therapies. ..
Meisler M, Russ C, Montgomery K, Greenway M, Ennis S, Hardiman O, et al
. Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS. Amyotroph Lateral Scler. 2008;9:141-8 pubmed publisher
..Several polymorphic non-synonymous SNPs were also observed in patients and controls. These initial data suggest that mutations in VPS54 are not a major cause of ALS. ..
Meisler M, O Brien J, Sharkey L. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol. 2010;588:1841-8 pubmed publisher
..Whole genome sequencing and exome sequencing in patients with epilepsy will soon make it possible to detect multiple variants and their interactions in the genomes of patients with seizure disorders. ..
Meisler M, Grant A, Jones J, Lenk G, He F, Todd P, et al
. C9ORF72 expansion in a family with bipolar disorder. Bipolar Disord. 2013;15:326-32 pubmed publisher
..DNA from cultured cells may be biased towards shorter repeats and nonrepresentative of the endogenous C9ORF72 expansion. ..
Estacion M, O Brien J, Conravey A, Hammer M, Waxman S, Dib Hajj S, et al
. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis. 2014;69:117-23 pubmed publisher
..6 supports the inclusion of SCN8A as a causative gene in infantile epilepsy, demonstrates a novel mechanism for hyperactivity of Nav1.6, and further expands the role of de novo mutations in severe epilepsy. ..