Ferguson CJ, Lenk GM, Meisler MH.
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.
Hum Mol Genet. 2009 Sep 29. [Epub ahead of print] [ PDF ]

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.
J Neurosci. 2009 Mar 4; 29(9):2733-2741. [ PDF ]

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.
Hum Mol Genet. 2009 May 1;18(9):1633-1641. Epub 2009 Mar 2. [ PDF ]

Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH.
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Am J Hum Genet. 2009 Jan;84(1):85-88. [ PDF ]

Jin N, Chow CY, Liu L, Zolov SN, Bronson R, Davisson M, Petersen JL, Zhang Y, Park S, Duex JE, Goldowitz D, Meisler MH, Weisman LS.
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.
EMBO J. 2008 Dec 17;27(24):3221-3234. Epub 2008 Nov 27.[ PDF ]

Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D.
Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
J Neurosci. 2008 Nov 12;28(46):11768-11777. Review. [ PDF ]

Howell VM, de Haan G, Bergren S, Jones JM, Culiat CT, Michaud EJ, Frankel WN, Meisler MH.
A targeted deleterious allele of the splicing factor SCNM1 in the mouse.
Genetics. 2008 Nov;180(3):1419-1427. Epub 2008 Sep 14. [ PDF ]

Sharkey LM, Jones JM, Hedera P, Meisler MH.
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.
Parkinsonism Relat Disord. 2009 May;15(4):321-323. Epub 2008 Aug 20.[ PDF ]

Meisler MH, Russ C, Montgomery KT, Greenway M, Ennis S, Hardiman O, Figlewicz DA, Quenneville NR, Conibear E, Brown RH Jr.
Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.
Amyotroph Lateral Scler. 2008 Jun;9(3):141-148.[ PubMed ]

McKinney BC, Chow CY, Meisler MH, Murphy GG.
Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6).
Genes Brain Behav. 2008 Aug;7(6):629-638. Epub 2008 Mar 21.[ PDF ]

Zhang Y, Zolov SN, Chow CY, Slutsky SG, Richardson SC, Piper RC, Yang B, Nau JJ, Westrick RJ, Morrison SJ, Meisler MH, Weisman LS.
Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.
Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17518-17523. Epub 2007 Oct 23.[ PDF ]

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.
Mamm Genome. 2007 Oct;18(10):723-731. Epub 2007 Oct 9.[ PDF ]

Howell VM, Jones JM, Bergren SK, Li L, Billi AC, Avenarius MR, Meisler MH. Evidence for a direct role of the disease modifier SCNM1 in splicing.
Hum Mol Genet. 2007 Oct 15;16(20):2506-2516. Epub 2007 Jul 26.[ PDF ]

Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17.[ PDF ]

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.
Behav Neurosci. 2006 Apr;120(2):229-240.[ PDF ]

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.
Pediatr Neurol. 2006 Feb;34(2):116-20 [ PDF ]

Schmitt-John T, Drepper C, Mussmann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, Jockusch H.
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.
Nat Genet. 2005 Nov;37(11):1213-5 [ PDF ]

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.
J Med Genet. 2005 Oct 19 [ PDF ]

Meisler MH, Kearney JA.
Sodium channel mutations in epilepsy and other neurological disorders.
J Clin Invest. 2005 Aug;115(8):2010-7. Review [ PDF ]

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. 2005 Feb;85(2):245-57 [ PDF ]

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.
J Neurosci. 2004 Nov 3;24(44):10022-34 [ PDF ]

Levin SI, Meisler MH.
Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6).
Genesis. 2004 Aug;39(4):234-9 [ PDF ]

MacDonald BT, Adamska M, Meisler MH.
Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6.
Development. 2004 Jun;131(11):2543-52 [ PDF ]

Jones JM, Datta P, Srinivasula SM, Ji W, Gupta S, Zhang Z, Davies E, Hajnoczky G, Saunders TL, Van Keuren ML, Fernandes-Alnemri T, Meisler MH, Alnemri ES.
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice.
Nature. 2003 Oct 16;425(6959):721-7 [ PDF ]

Buchner DA, Trudeau M, Meisler MH.
SCNM1, a putative RNA splicing factor that modifies disease severity in mice.
Science. 2003 Aug 15;301(5635):967-9 [ PDF ]

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.
Mol Psychiatry. 2003 Feb;8(2):186-94 [ PDF ]

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).
Hum Mol Genet. 2002 Oct 15;11(22):2765-75 [ PDF ] [ Video medJ 1month ] [ Video medJ 3months ]

Meisler MH, Kearney J, Ottman R, Escayg A.
Identification of epilepsy genes in human and mouse.
Annu Rev Genet. 2001;35:567-88. Review [ PDF ]

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. 2001;102(2):307-17 [ PDF ]

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.
Hum Mol Genet. 2000 Mar 22;9(5):821-8 [ PDF ]

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.
Nat Genet. 2000 Apr;24(4):343-5 [ PDF ]

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.
J Biol Chem. 1997 Sep 19;272(38):24008-15 [ PDF ]

Burgess DL, Jones JM, Meisler MH, Noebels JL.
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.
Cell. 1997 Feb 7;88(3):385-92 [ PDF ]

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.
J Neurosci. 1996 Oct 1;16(19):5993-9 [ PDF ]

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'.
Nat Genet. 1995 Aug;10(4):461-5