Miriam H. Meisler - Publications

Affiliations: 
University of Michigan, Ann Arbor, Ann Arbor, MI 
Area:
Genetics, Neuroscience Biology

102 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Yu W, Mulligan MK, Williams RW, Meisler MH. Correction of the hypomorphic splice site variant in mouse strain C57BL/6J modifies the severity of encephalopathy. Hgg Advances. 3: 100064. PMID 35047853 DOI: 10.1016/j.xhgg.2021.100064  0.31
2021 Yu W, Smolen CE, Hill SF, Meisler MH. Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse. Human Molecular Genetics. PMID 33822038 DOI: 10.1093/hmg/ddab092  0.303
2021 Meisler MH, Hill SF, Yu W. Sodium channelopathies in neurodevelopmental disorders. Nature Reviews. Neuroscience. PMID 33531663 DOI: 10.1038/s41583-020-00418-4  0.357
2019 Meisler MH. SCN8A encephalopathy: Mechanisms and models. Epilepsia. 60: S86-S91. PMID 31904118 DOI: 10.1111/Epi.14703  0.34
2019 Solé L, Wagnon JL, Akin EJ, Meisler MH, Tamkun MM. The MAP1B binding domain of Na1.6 is required for stable expression at the axon initial segment. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 30914445 DOI: 10.1523/Jneurosci.2771-18.2019  0.334
2019 Bunton-Stasyshyn RKA, Wagnon JL, Wengert ER, Barker BS, Faulkner A, Wagley PK, Bhatia K, Jones JM, Maniaci MR, Parent JM, Goodkin HP, Patel MK, Meisler MH. Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. Brain : a Journal of Neurology. PMID 30601941 DOI: 10.1093/Brain/Awy324  0.329
2018 Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, ... ... Meisler M, et al. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. American Journal of Human Genetics. 103: 1022-1029. PMID 30526861 DOI: 10.1016/J.Ajhg.2018.10.023  0.347
2018 Wagnon JL, Mencacci NE, Barker BS, Wenger ER, Bhatia KP, Balint B, Carecchio M, Wood NW, Patel MK, Meisler MH. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Human Mutation. PMID 29726066 DOI: 10.1002/Humu.23547  0.358
2017 Ottolini M, Barker BS, Gaykema RP, Meisler MH, Patel MK. Aberrant sodium channel currents and hyperexcitability of medial entorhinal cortex neurons in a mouse model of SCN8A encephalopathy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 28676574 DOI: 10.1523/Jneurosci.2709-16.2017  0.306
2016 Malcolmson J, Kleyner R, Tegay D, Adams W, Ward K, Coppinger J, Nelson L, Meisler MH, Wang K, Robison R, Lyon GJ. SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harbor Molecular Case Studies. 2: a001073. PMID 27900360 DOI: 10.1101/mcs.a001073  0.336
2016 Sprissler RS, Wagnon JL, Bunton-Stasyshyn RK, Meisler MH, Hammer MF. Altered gene expression profile in a mouse model of SCN8A encephalopathy. Experimental Neurology. PMID 27836728 DOI: 10.1016/J.Expneurol.2016.11.002  0.316
2016 Frasier CR, Wagnon JL, Bao YO, McVeigh LG, Lopez-Santiago LF, Meisler MH, Isom LL. Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. Proceedings of the National Academy of Sciences of the United States of America. PMID 27791149 DOI: 10.1073/Pnas.1612746113  0.321
2016 Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, et al. SCN8A encephalopathy: Research progress and prospects. Epilepsia. PMID 27270488 DOI: 10.1111/Epi.13422  0.335
2016 Wagnon JL, Barker BS, Hounshell JA, Haaxma CA, Shealy A, Moss T, Parikh S, Messer RD, Patel MK, Meisler MH. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Annals of Clinical and Translational Neurology. 3: 114-23. PMID 26900580 DOI: 10.1002/Acn3.276  0.342
2016 Jones JM, Dionne L, Dell'Orco J, Parent R, Krueger JN, Cheng X, Dib-Hajj SD, Bunton-Stasyshyn RK, Sharkey LM, Dowling JJ, Murphy GG, Shakkottai VG, Shrager P, Meisler MH. Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiology of Disease. PMID 26807988 DOI: 10.1016/J.Nbd.2016.01.018  0.355
2016 Wagnon JL, Bunton-Stasyshyn RK, Meisler MH. Mutations of Sodium Channel SCN8A (Nav1.6) in Neurological Disease Ion Channels in Health and Disease. 239-264. DOI: 10.1016/B978-0-12-802002-9.00010-8  0.357
2015 Lenk GM, Frei CM, Miller AC, Wallen RC, Mironova YA, Giger RJ, Meisler MH. Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. Human Molecular Genetics. PMID 26604144 DOI: 10.1093/Hmg/Ddv480  0.304
2015 Wu YW, Sullivan J, McDaniel SS, Meisler MH, Walsh EM, Li SX, Kuzniewicz MW. Incidence of Dravet Syndrome in a US Population. Pediatrics. PMID 26438699 DOI: 10.1542/Peds.2015-1807  0.313
2015 Pal D, Jones JM, Wisidagamage S, Meisler MH, Mashour GA. Reduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics. Plos One. 10: e0134960. PMID 26252017 DOI: 10.1371/Journal.Pone.0134960  0.31
2015 Wagnon JL, Meisler MH. Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. Frontiers in Neurology. 6: 104. PMID 26029160 DOI: 10.3389/Fneur.2015.00104  0.326
2015 Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. Journal of Medical Genetics. 52: 330-7. PMID 25725044 DOI: 10.1136/Jmedgenet-2014-102813  0.333
2015 Wagnon JL, Korn MJ, Parent R, Tarpey TA, Jones JM, Hammer MF, Murphy GG, Parent JM, Meisler MH. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Human Molecular Genetics. 24: 506-15. PMID 25227913 DOI: 10.1093/Hmg/Ddu470  0.332
2014 Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscular Disorders : Nmd. 24: 666-70. PMID 24878229 DOI: 10.1016/J.Nmd.2014.04.010  0.307
2014 Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiology of Disease. 69: 117-23. PMID 24874546 DOI: 10.1016/J.Nbd.2014.05.017  0.391
2014 Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, ... Meisler MH, et al. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology. 82: 1068-75. PMID 24598713 DOI: 10.1212/Wnl.0000000000000241  0.541
2014 Jones JM, Meisler MH. Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a. Genesis (New York, N.Y. : 2000). 52: 141-8. PMID 24288358 DOI: 10.1002/Dvg.22731  0.329
2013 O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Frontiers in Genetics. 4: 213. PMID 24194747 DOI: 10.3389/Fgene.2013.00213  0.381
2013 Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, et al. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. American Journal of Human Genetics. 92: 781-91. PMID 23623387 DOI: 10.1016/J.Ajhg.2013.03.020  0.312
2012 Zhang Y, McCartney AJ, Zolov SN, Ferguson CJ, Meisler MH, Sutton MA, Weisman LS. Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)Pâ‚‚ and PI(5)P. The Embo Journal. 31: 3442-56. PMID 22842785 DOI: 10.1038/Emboj.2012.200  0.506
2012 Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Human Molecular Genetics. 21: 3525-34. PMID 22581779 DOI: 10.1093/Hmg/Dds179  0.548
2012 Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. American Journal of Human Genetics. 90: 502-10. PMID 22365152 DOI: 10.1016/J.Ajhg.2012.01.006  0.374
2012 O'Brien JE, Drews VL, Jones JM, Dugas JC, Barres BA, Meisler MH. Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. Molecular and Cellular Neurosciences. 49: 120-6. PMID 22044765 DOI: 10.1016/J.Mcn.2011.10.005  0.814
2011 Winters JJ, Ferguson CJ, Lenk GM, Giger-Mateeva VI, Shrager P, Meisler MH, Giger RJ. Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 17736-51. PMID 22131434 DOI: 10.1523/Jneurosci.1482-11.2011  0.517
2011 Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, ... Meisler MH, et al. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)Pâ‚‚ phosphatase FIG4. Brain : a Journal of Neurology. 134: 1959-71. PMID 21705420 DOI: 10.1093/Brain/Awr148  0.548
2011 Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. Plos Genetics. 7: e1002104. PMID 21655088 DOI: 10.1371/Journal.Pgen.1002104  0.545
2011 Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Archives of Neurology. 68: 665-71. PMID 21555645 DOI: 10.1001/Archneurol.2011.98  0.316
2010 Meisler MH, O'Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. The Journal of Physiology. 588: 1841-8. PMID 20351042 DOI: 10.1113/jphysiol.2010.188482  0.36
2010 Martin MS, Dutt K, Papale LA, Dubé CM, Dutton SB, de Haan G, Shankar A, Tufik S, Meisler MH, Baram TZ, Goldin AL, Escayg A. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. The Journal of Biological Chemistry. 285: 9823-34. PMID 20100831 DOI: 10.1074/Jbc.M109.078568  0.81
2010 Ferguson CJ, Lenk GM, Meisler MH. PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration. Autophagy. 6: 170-1. PMID 20009544 DOI: 10.4161/Auto.6.1.10626  0.501
2009 Ferguson CJ, Lenk GM, Meisler MH. Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. Human Molecular Genetics. 18: 4868-78. PMID 19793721 DOI: 10.1093/Hmg/Ddp460  0.547
2009 Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ, Waxman SG, Dib-Hajj SD, Meisler MH. The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 2733-41. PMID 19261867 DOI: 10.1523/Jneurosci.6026-08.2009  0.817
2009 Papale LA, Beyer B, Jones JM, Sharkey LM, Tufik S, Epstein M, Letts VA, Meisler MH, Frankel WN, Escayg A. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Human Molecular Genetics. 18: 1633-41. PMID 19254928 DOI: 10.1093/Hmg/Ddp081  0.681
2009 Sharkey LM, Jones JM, Hedera P, Meisler MH. Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. Parkinsonism & Related Disorders. 15: 321-3. PMID 18718804 DOI: 10.1016/j.parkreldis.2008.06.010  0.321
2008 Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 11768-77. PMID 19005038 DOI: 10.1523/JNEUROSCI.3901-08.2008  0.316
2008 Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neuroscience Letters. 433: 65-70. PMID 18242854 DOI: 10.1016/J.Neulet.2007.12.064  0.354
2007 Drews VL, Shi K, de Haan G, Meisler MH. Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 18: 723-31. PMID 17924165 DOI: 10.1007/S00335-007-9059-8  0.817
2006 Woodruff-Pak DS, Green JT, Levin SI, Meisler MH. Inactivation of sodium channel Scn8A (Na-sub(v)1.6) in Purkinje neurons impairs learning in Morris water maze and delay but not trace eyeblink classical conditioning. Behavioral Neuroscience. 120: 229-40. PMID 16719687 DOI: 10.1037/0735-7044.120.2.229  0.716
2006 Levin SI, Khaliq ZM, Aman TK, Grieco TM, Kearney JA, Raman IM, Meisler MH. Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells. Journal of Neurophysiology. 96: 785-93. PMID 16687615 DOI: 10.1152/Jn.01193.2005  0.743
2006 Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric Neurology. 34: 116-20. PMID 16458823 DOI: 10.1016/J.Pediatrneurol.2005.07.009  0.678
2006 Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. Journal of Medical Genetics. 43: 527-30. PMID 16236810 DOI: 10.1136/Jmg.2005.035667  0.339
2005 Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-2500. PMID 16278970  0.308
2005 Meisler MH, Kearney JA. Sodium channel mutations in epilepsy and other neurological disorders. The Journal of Clinical Investigation. 115: 2010-7. PMID 16075041 DOI: 10.1172/Jci25466  0.34
2005 Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-500. PMID 16049035 DOI: 10.1093/Hmg/Ddi250  0.308
2005 Drews VL, Lieberman AP, Meisler MH. Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. Genomics. 85: 245-57. PMID 15676283 DOI: 10.1016/J.Ygeno.2004.09.002  0.805
2004 Meisler MH, Plummer NW, Burgess DL, Buchner DA, Sprunger LK. Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions. Genetica. 122: 37-45. PMID 15619959 DOI: 10.1007/S10709-004-1441-9  0.828
2004 Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 10022-34. PMID 15525788 DOI: 10.1523/Jneurosci.2034-04.2004  0.814
2004 Levin SI, Meisler MH. Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6). Genesis (New York, N.Y. : 2000). 39: 234-9. PMID 15286995 DOI: 10.1002/Gene.20050  0.787
2004 Adamska M, MacDonald BT, Sarmast ZH, Oliver ER, Meisler MH. En1 and Wnt7a interact with Dkk1 during limb development in the mouse. Developmental Biology. 272: 134-44. PMID 15242796 DOI: 10.1016/J.Ydbio.2004.04.026  0.683
2004 Buchner DA, Seburn KL, Frankel WN, Meisler MH. Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 344-51. PMID 15170223 DOI: 10.1007/S00335-004-2332-1  0.744
2004 MacDonald BT, Adamska M, Meisler MH. Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. Development (Cambridge, England). 131: 2543-52. PMID 15115753 DOI: 10.1242/Dev.01126  0.703
2003 Buchner DA, Trudeau M, George AL, Sprunger LK, Meisler MH. High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot. Genomics. 82: 452-9. PMID 13679025 DOI: 10.1016/S0888-7543(03)00152-6  0.81
2003 Buchner DA, Trudeau M, Meisler MH. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science (New York, N.Y.). 301: 967-9. PMID 12920299 DOI: 10.1126/Science.1086187  0.704
2003 Wang Y, Matsuda S, Drews V, Torashima T, Meisler MH, Yuzaki M. A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor. The European Journal of Neuroscience. 17: 1581-90. PMID 12752376 DOI: 10.1046/J.1460-9568.2003.02595.X  0.805
2003 Buchner DA, Meisler MH. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. Gene. 307: 23-30. PMID 12706885 DOI: 10.1016/S0378-1119(03)00423-2  0.698
2003 Adamska M, MacDonald BT, Meisler MH. Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb. Developmental Biology. 255: 350-62. PMID 12648495 DOI: 10.1016/S0012-1606(02)00114-8  0.69
2003 Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Molecular Psychiatry. 8: 186-94. PMID 12610651 DOI: 10.1038/Sj.Mp.4001241  0.809
2003 Spampanato J, Escayg A, Meisler MH, Goldin AL. Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience. 116: 37-48. PMID 12535936 DOI: 10.1016/S0306-4522(02)00698-X  0.691
2002 Kearney JA, Buchner DA, De Haan G, Adamska M, Levin SI, Furay AR, Albin RL, Jones JM, Montal M, Stevens MJ, Sprunger LK, Meisler MH. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Human Molecular Genetics. 11: 2765-75. PMID 12374766 DOI: 10.1093/Hmg/11.22.2765  0.817
2002 Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A. Mutations of voltage-gated sodium channels in movement disorders and epilepsy. Novartis Foundation Symposium. 241: 72-81; discussion 82. PMID 11771652 DOI: 10.1002/0470846682.Ch6  0.828
2001 Meisler MH, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annual Review of Genetics. 35: 567-88. PMID 11700294 DOI: 10.1146/Annurev.Genet.35.102401.091142  0.69
2001 Spampanato J, Escayg A, Meisler MH, Goldin AL. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 7481-90. PMID 11567038 DOI: 10.1523/Jneurosci.21-19-07481.2001  0.684
2001 Meisler MH, Kearney J, Escayg A, MacDonald BT, Sprunger LK. Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 7: 136-45. PMID 11496924 DOI: 10.1177/107385840100700208  0.836
2001 Reid E, Escayg A, Dearlove AM, Lee DD, Meisler MH, Rubinsztein DC. The spastic paraplegia SPG10 locus: Narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate [7] Journal of Medical Genetics. 38: 65-67. PMID 11334010 DOI: 10.1136/Jmg.38.1.65  0.615
2001 Maurice N, Tkatch T, Meisler M, Sprunger LK, Surmeier DJ. D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 2268-77. PMID 11264302 DOI: 10.1523/Jneurosci.21-07-02268.2001  0.645
2001 Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. American Journal of Human Genetics. 68: 866-73. PMID 11254445 DOI: 10.1086/319524  0.812
2001 Kearney JA, Plummer NW, Smith MR, Kapur J, Cummins TR, Waxman SG, Goldin AL, Meisler MH. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience. 102: 307-17. PMID 11166117 DOI: 10.1016/S0306-4522(00)00479-6  0.746
2000 Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. American Journal of Human Genetics. 66: 1531-9. PMID 10762541 DOI: 10.1086/302909  0.697
2000 Jones JM, Huang JD, Mermall V, Hamilton BA, Mooseker MS, Escayg A, Copeland NG, Jenkins NA, Meisler MH. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Human Molecular Genetics. 9: 821-8. PMID 10749990 DOI: 10.1093/Hmg/9.5.821  0.668
2000 Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics. 24: 343-5. PMID 10742094 DOI: 10.1038/74159  0.804
2000 Sprunger LK, Meisler MH, Stratakis CA. Recombination between the sodium channel SCN8A and the Allgrove syndrome gene in a Puerto Rican kindred Journal of Endocrine Genetics. 1: 165-169.  0.694
1999 Chen K, Sprunger LK, Meisler MH, Waller HJ, Godfrey DA. Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice. Brain Research. 847: 85-9. PMID 10564739 DOI: 10.1016/S0006-8993(99)02031-4  0.649
1999 Lu W, Phillips CL, Killen PD, Hlaing T, Harrison WR, Elder FF, Miner JH, Overbeek PA, Meisler MH. Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics. 61: 113-24. PMID 10534397 DOI: 10.1006/Geno.1999.5943  0.318
1999 Dib-Hajj SD, Tyrrell L, Escayg A, Wood PM, Meisler MH, Waxman SG. Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN Genomics. 59: 309-318. PMID 10444332 DOI: 10.1006/Geno.1999.5890  0.68
1999 Plummer NW, Meisler MH. Evolution and diversity of mammalian sodium channel genes Genomics. 57: 323-331. PMID 10198179 DOI: 10.1006/Geno.1998.5735  0.668
1999 Ji W, Herron B, Jones JM, Jenkins NA, Gilbert DJ, Copeland NG, Swank R, Flaherty L, Meisler MH. Identification of genes within the Krd deletion on mouse chromosome 19. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 10: 399-401. PMID 10087301 DOI: 10.1007/S003359901010  0.313
1999 Sprunger LK, Escayg A, Tallaksen-Greene S, Albin RL, Meisler MH. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Human Molecular Genetics. 8: 471-9. PMID 9949206 DOI: 10.1093/Hmg/8.3.471  0.795
1998 Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, Kohrman DC, Meisler MH. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics. 54: 287-96. PMID 9828131 DOI: 10.1006/Geno.1998.5550  0.817
1998 Smith MR, Smith RD, Plummer NW, Meisler MH, Goldin AL. Functional analysis of the mouse Scn8a sodium channel. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 6093-102. PMID 9698304 DOI: 10.1523/Jneurosci.18-16-06093.1998  0.721
1998 García KD, Sprunger LK, Meisler MH, Beam KG. The sodium channel Scn8a is the major contributor to the postnatal developmental increase of sodium current density in spinal motoneurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 5234-9. PMID 9651206 DOI: 10.1523/Jneurosci.18-14-05234.1998  0.647
1998 Escayg A, Jones JM, Kearney JA, Hitchcock PF, Meisler MH. Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. Genomics. 50: 14-22. PMID 9628818 DOI: 10.1006/Geno.1998.5311  0.684
1998 Meisler MH, Griffith AJ, Warman M, Tiller G, Sprunger LK. Gene symbol: COL11A1. Disease: Marshall syndrome. Human Genetics. 102: 498. PMID 9600252 DOI: 10.1007/S004390050731  0.599
1998 Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. American Journal of Human Genetics. 62: 816-23. PMID 9529347 DOI: 10.1086/301789  0.668
1997 Meisler MH, Sprunger LK, Plummer NW, Escayg A, Jones JM. Ion channel mutations in mouse models of inherited neurological disease. Annals of Medicine. 29: 569-74. PMID 9562526 DOI: 10.3109/07853899709007484  0.831
1997 Raman IM, Sprunger LK, Meisler MH, Bean BP. Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice. Neuron. 19: 881-91. PMID 9354334 DOI: 10.1016/S0896-6273(00)80969-1  0.659
1997 Plummer NW, McBurney MW, Meisler MH. Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells Journal of Biological Chemistry. 272: 24008-24015. PMID 9295353 DOI: 10.1074/jbc.272.38.24008  0.733
1996 Kohrman DC, Smith MR, Goldin AL, Harris J, Meisler MH. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 16: 5993-9. PMID 8815882 DOI: 10.1523/Jneurosci.16-19-05993.1996  0.747
1996 Griffith AJ, Burgess DL, Kohrman DC, Yu J, Blaschak J, Blanton SH, Boehnke M, Hecht JT, Overhauser J, Meisler MH. Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPO. Genomics. 34: 299-303. PMID 8786128 DOI: 10.1006/Geno.1996.0290  0.73
1996 Kohrman DC, Harris JB, Meisler MH. Mutation detection in the med and med(J) alleles of the sodium channel Scn8a: Unusual splicing due to a minor class AT-AC intron Journal of Biological Chemistry. 271: 17576-17581. PMID 8663325 DOI: 10.1074/Jbc.271.29.17576  0.724
1996 Griffith AJ, Radice GL, Burgess DL, Kohrman DC, Hansen GM, Justice MJ, Johnson KR, Davisson MT, Meisler MH. Location of the 9257 and ataxia mutations on mouse chromosome 18. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 7: 417-9. PMID 8662222 DOI: 10.1007/S003359900124  0.735
1995 Burgess DL, Kohrman DC, Galt J, Plummer NW, Jones JM, Spear B, Meisler MH. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nature Genetics. 10: 461-5. PMID 7670495 DOI: 10.1038/Ng0895-461  0.821
1995 Kohrman DC, Plummer NW, Schuster T, Jones JM, Jang W, Burgess DL, Galt J, Spear BT, Meisler MH. Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15. Genomics. 26: 171-7. PMID 7601440 DOI: 10.1016/0888-7543(95)80198-U  0.818
1994 Ting CN, Kohrman D, Burgess DL, Boyle A, Altschuler RA, Gholizadeh G, Samuelson LC, Jang W, Meisler MH. Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities. Genetics. 136: 247-54. PMID 7511123  0.311
Show low-probability matches.