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Items: 1 to 20 of 217

1.

Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS.

Saitoh M, Kobayashi K, Ohmori I, Tanaka Y, Tanaka K, Inoue T, Horino A, Ohmura K, Kumakura A, Takei Y, Hirabayashi S, Kajimoto M, Uchida T, Yamazaki S, Shiihara T, Kumagai T, Kasai M, Terashima H, Kubota M, Mizuguchi M.

J Neurol Sci. 2016 Sep 15;368:272-6. doi: 10.1016/j.jns.2016.07.040. Epub 2016 Jul 16.

PMID:
27538648
2.

Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

Thuresson AC, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, Soussi Zander C.

Clin Genet. 2016 May 6. doi: 10.1111/cge.12797. [Epub ahead of print]

PMID:
27153334
3.

Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.

Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA.

Epilepsia. 2016 Jun;57(6):e103-7. doi: 10.1111/epi.13390. Epub 2016 Apr 25.

PMID:
27112236
4.

Regulation of SCN3B/scn3b by Interleukin 2 (IL-2): IL-2 modulates SCN3B/scn3b transcript expression and increases sodium current in myocardial cells.

Zhao Y, Sun Q, Zeng Z, Li Q, Zhou S, Zhou M, Xue Y, Cheng X, Xia Y, Wang Q, Tu X.

BMC Cardiovasc Disord. 2016 Jan 4;16:1. doi: 10.1186/s12872-015-0179-x.

5.

Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.

Hawkins NA, Kearney JA.

Epilepsy Res. 2016 Jan;119:20-3. doi: 10.1016/j.eplepsyres.2015.11.016. Epub 2015 Dec 1.

PMID:
26656780
6.

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD.

Mol Genet Metab. 2016 Jan;117(1):42-8. doi: 10.1016/j.ymgme.2015.11.008. Epub 2015 Nov 17.

PMID:
26647175
7.

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UB.

J Neurol. 2016 Feb;263(2):334-43. doi: 10.1007/s00415-015-7984-0. Epub 2015 Dec 8.

PMID:
26645390
8.

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AT, Sestan N, Walsh CA.

Neuron. 2015 Dec 2;88(5):910-7. doi: 10.1016/j.neuron.2015.11.009.

PMID:
26637798
9.

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.

Carroll LS, Woolf R, Ibrahim Y, Williams HJ, Dwyer S, Walters J, Kirov G, O'Donovan MC, Owen MJ.

Psychiatr Genet. 2016 Apr;26(2):60-5. doi: 10.1097/YPG.0000000000000110.

PMID:
26555645
10.

Novel Cadmium Responsive MicroRNAs in Daphnia pulex.

Chen S, McKinney GJ, Nichols KM, Colbourne JK, Sepúlveda MS.

Environ Sci Technol. 2015 Dec 15;49(24):14605-13. doi: 10.1021/acs.est.5b03988. Epub 2015 Nov 20.

PMID:
26550707
11.

An update on transcriptional and post-translational regulation of brain voltage-gated sodium channels.

Onwuli DO, Beltran-Alvarez P.

Amino Acids. 2016 Mar;48(3):641-51. doi: 10.1007/s00726-015-2122-y. Epub 2015 Oct 27.

12.

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

Saitoh M, Ishii A, Ihara Y, Hoshino A, Terashima H, Kubota M, Kikuchi K, Yamanaka G, Amemiya K, Hirose S, Mizuguchi M.

Epilepsy Res. 2015 Nov;117:1-6. doi: 10.1016/j.eplepsyres.2015.08.001. Epub 2015 Aug 6.

PMID:
26311622
13.

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE.

Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19.

PMID:
26291284
14.

Calmodulin and Ca(2+) control of voltage gated Na(+) channels.

Gabelli SB, Yoder JB, Tomaselli GF, Amzel LM.

Channels (Austin). 2016;10(1):45-54. doi: 10.1080/19336950.2015.1075677. Epub 2015 Jul 28.

15.

[Drug resistant epilepsy. Clinical and neurobiological concepts].

Espinosa-Jovel CA, Sobrino-Mejía FE.

Rev Neurol. 2015 Aug 16;61(4):159-66. Review. Spanish.

16.

ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population.

Zhou L, Cao Y, Long H, Long L, Xu L, Liu Z, Zhang Y, Xiao B.

Pharmazie. 2015 Jun;70(6):416-20.

PMID:
26189305
17.

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, Berkovic SF.

Epilepsia. 2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15.

18.

A Common Polymorphism in SCN2A Predicts General Cognitive Ability through Effects on PFC Physiology.

Scult MA, Trampush JW, Zheng F, Conley ED, Lencz T, Malhotra AK, Dickinson D, Weinberger DR, Hariri AR.

J Cogn Neurosci. 2015 Sep;27(9):1766-74. doi: 10.1162/jocn_a_00826. Epub 2015 May 11.

19.

Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications.

Yoshitomi S, Takahashi Y, Ishizuka M, Yamaguchi T, Watanabe A, Nasu H, Ueda Y, Ohtani H, Ikeda H, Imai K, Shigematsu H, Inoue Y, Tanahashi Y, Aiba K, Ohta H, Shimada S, Yamamoto T.

Brain Dev. 2015 Oct;37(9):874-9. doi: 10.1016/j.braindev.2015.03.001. Epub 2015 Apr 3.

PMID:
25843248
20.

SCN1A, ABCC2 and UGT2B7 gene polymorphisms in association with individualized oxcarbazepine therapy.

Ma CL, Wu XY, Jiao Z, Hong Z, Wu ZY, Zhong MK.

Pharmacogenomics. 2015;16(4):347-60. doi: 10.2217/pgs.14.186.

PMID:
25823783
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