Escayg A - Search Results

1

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. Nat Genet. 2000 Apr;24(4):343-5. doi: 10.1038/74159. Nat Genet. 2000. PMID: 10742094 No abstract available.

2

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: escayg a. Hum Mol Genet. 1999 Mar;8(3):471-9. doi: 10.1093/hmg/8.3.471. Hum Mol Genet. 1999. PMID: 9949206

3

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. 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.

4

Sodium channels and neurological disease: insights from Scn8a mutations in the mouse.

Meisler MH, Kearney J, Escayg A, MacDonald BT, Sprunger LK. Meisler MH, et al. Among authors: escayg a. Neuroscientist. 2001 Apr;7(2):136-45. doi: 10.1177/107385840100700208. Neuroscientist. 2001. PMID: 11496924 Review.

5

Identification of epilepsy genes in human and mouse.

Meisler MH, Kearney J, Ottman R, Escayg A. Meisler MH, et al. Among authors: escayg a. 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.

6

Mutations of voltage-gated sodium channels in movement disorders and epilepsy.

Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A. Meisler MH, et al. Among authors: escayg a. Novartis Found Symp. 2002;241:72-81; discussion 82-6, 226-32. Novartis Found Symp. 2002. PMID: 11771652 Review.

7

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Kearney JA, et al. Among authors: escayg a. Pediatr Neurol. 2006 Feb;34(2):116-20. doi: 10.1016/j.pediatrneurol.2005.07.009. Pediatr Neurol. 2006. PMID: 16458823

8

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.

Papale LA, Beyer B, Jones JM, Sharkey LM, Tufik S, Epstein M, Letts VA, Meisler MH, Frankel WN, Escayg A. Papale LA, et al. Among authors: escayg a. Hum Mol Genet. 2009 May 1;18(9):1633-41. doi: 10.1093/hmg/ddp081. Epub 2009 Mar 2. Hum Mol Genet. 2009. PMID: 19254928 Free PMC article.

9

Ion channel mutations in mouse models of inherited neurological disease.

Meisler MH, Sprunger LK, Plummer NW, Escayg A, Jones JM. Meisler MH, et al. Among authors: escayg a. Ann Med. 1997 Dec;29(6):569-74. doi: 10.3109/07853899709007484. Ann Med. 1997. PMID: 9562526 Review.

10

Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.

Escayg A, Jones JM, Kearney JA, Hitchcock PF, Meisler MH. Escayg A, et al. Genomics. 1998 May 15;50(1):14-22. doi: 10.1006/geno.1998.5311. Genomics. 1998. PMID: 9628818

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

84 results

Search Page