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