Meisler M - Search Results

1

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

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, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group; Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. Carvill GL, et al. Among authors: meisler m. Am J Hum Genet. 2018 Dec 6;103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023. Am J Hum Genet. 2018. PMID: 30526861 Free PMC article.

2

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'.

Burgess DL, Kohrman DC, Galt J, Plummer NW, Jones JM, Spear B, Meisler MH. Burgess DL, et al. Among authors: meisler mh. Nat Genet. 1995 Aug;10(4):461-5. doi: 10.1038/ng0895-461. Nat Genet. 1995. PMID: 7670495

3

Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Griffith AJ, et al. Among authors: meisler mh. Am J Hum Genet. 1998 Apr;62(4):816-23. doi: 10.1086/301789. Am J Hum Genet. 1998. PMID: 9529347 Free PMC article.

4

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3.

Sprunger LK, Escayg A, Tallaksen-Greene S, Albin RL, Meisler MH. Sprunger LK, et al. Among authors: meisler mh. Hum Mol Genet. 1999 Mar;8(3):471-9. doi: 10.1093/hmg/8.3.471. Hum Mol Genet. 1999. PMID: 9949206

5

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

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. Escayg A, et al. Among authors: meisler mh. Nat Genet. 2000 Apr;24(4):343-5. doi: 10.1038/74159. Nat Genet. 2000. PMID: 10742094 No abstract available.

6

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. Escayg A, et al. Among authors: meisler mh. Am J Hum Genet. 2000 May;66(5):1531-9. doi: 10.1086/302909. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10762541 Free PMC article.

7

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. Escayg A, et al. Among authors: meisler mh. Am J Hum Genet. 2001 Apr;68(4):866-73. doi: 10.1086/319524. Epub 2001 Mar 14. Am J Hum Genet. 2001. PMID: 11254445 Free PMC article.

8

Identification of epilepsy genes in human and mouse.

Meisler MH, Kearney J, Ottman R, Escayg A. Meisler MH, et al. Annu Rev Genet. 2001;35:567-88. doi: 10.1146/annurev.genet.35.102401.091142. Annu Rev Genet. 2001. PMID: 11700294 Free PMC article. Review.

9

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

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. Kearney JA, et al. Among authors: meisler mh. Hum Mol Genet. 2002 Oct 15;11(22):2765-75. doi: 10.1093/hmg/11.22.2765. Hum Mol Genet. 2002. PMID: 12374766

10

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. Weiss LA, et al. Among authors: meisler mh. Mol Psychiatry. 2003 Feb;8(2):186-94. doi: 10.1038/sj.mp.4001241. Mol Psychiatry. 2003. PMID: 12610651

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