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Items: 1 to 20 of 374

1.

SCN3A deficiency associated with increased seizure susceptibility.

Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SB, Jorge BS, Velinov M, Escayg A, Kearney JA.

Neurobiol Dis. 2017 Feb 21. pii: S0969-9961(17)30037-2. doi: 10.1016/j.nbd.2017.02.006. [Epub ahead of print]

PMID:
28235671
2.

CaMKII modulates sodium current in neurons from epileptic <i>Scn2a</i> mutant mice.

Thompson CH, Hawkins NA, Kearney JA, George AL Jr.

Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):1696-1701. doi: 10.1073/pnas.1615774114.

PMID:
28137877
3.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A.

Ann Neurol. 2017 Jan 30. doi: 10.1002/ana.24883. [Epub ahead of print]

PMID:
28133863
4.

SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers.

Gorman KM, King MD.

Pediatr Neurol. 2017 Feb;67:111-112. doi: 10.1016/j.pediatrneurol.2016.11.008. No abstract available.

PMID:
28065826
5.

SUMOylation of NaV1.2 channels mediates the early response to acute hypoxia in central neurons.

Plant LD, Marks JD, Goldstein SA.

Elife. 2016 Dec 28;5. pii: e20054. doi: 10.7554/eLife.20054.

6.

[The diagnosis of idiopathic epilepsy in children based on the algorithm of molecular-genetic studies].

Kozhanova TV, Zhilina SS, Aivazyan SO, Anan'eva TV, Abramov AA, Belenikin MS, Meshcheryakova TI, Mutovin GR, Zavadenko NN.

Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(9. Vyp. 2):49-56. Russian.

PMID:
28005047
7.

Quiescin-sulfhydryl oxidase inhibits prion formation in vitro.

Zhan YA, Abskharon R, Li Y, Yuan J, Zeng L, Dang J, Martinez MC, Wang Z, Mikol J, Lehmann S, Bu S, Steyaert J, Cui L, Petersen RB, Kong Q, Wang GX, Wohlkonig A, Zou WQ.

Aging (Albany NY). 2016 Dec 11;8(12):3419-3429. doi: 10.18632/aging.101132.

8.

Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.

Rubinstein M, Patowary A, Stanaway IB, McCord E, Nesbitt RR, Archer M, Scheuer T, Nickerson D, Raskind WH, Wijsman EM, Bernier R, Catterall WA, Brkanac Z.

Mol Psychiatry. 2016 Dec 13. doi: 10.1038/mp.2016.222. [Epub ahead of print]

PMID:
27956748
9.

Polymorphisms of ABAT, SCN2A and ALDH5A1 may affect valproic acid responses in the treatment of epilepsy in Chinese.

Li X, Zhang J, Wu X, Yan H, Zhang Y, He RH, Tang YJ, He YJ, Tan D, Mao XY, Yin JY, Liu ZQ, Zhou HH, Liu J.

Pharmacogenomics. 2016 Dec;17(18):2007-2014.

PMID:
27918244
10.

Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.

Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, Taglialatela M, Oldham MS, Vigevano F, Holmes GL, Cilio MR.

Epilepsia. 2016 Dec;57(12):2019-2030. doi: 10.1111/epi.13596.

PMID:
27888506
11.

Activity of NaV1.2 promotes neurodegeneration in an animal model of multiple sclerosis.

Schattling B, Fazeli W, Engeland B, Liu Y, Lerche H, Isbrandt D, Friese MA.

JCI Insight. 2016 Nov 17;1(19):e89810.

12.

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.

Dilena R, Striano P, Gennaro E, Bassi L, Olivotto S, Tadini L, Mosca F, Barbieri S, Zara F, Fumagalli M.

Brain Dev. 2016 Nov 19. pii: S0387-7604(16)30184-X. doi: 10.1016/j.braindev.2016.10.015. [Epub ahead of print]

PMID:
27876397
13.

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

Foster LA, Johnson MR, MacDonald JT, Karachunski PI, Henry TR, Nascene DR, Moran BP, Raymond GV.

Pediatr Neurol. 2017 Jan;66:108-111. doi: 10.1016/j.pediatrneurol.2016.10.008.

PMID:
27867041
14.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group., Guerrini R.

Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149.

PMID:
27864847
15.

Identification of novel fluorescent probes preventing PrPSc replication in prion diseases.

Zaccagnini L, Brogi S, Brindisi M, Gemma S, Chemi G, Legname G, Campiani G, Butini S.

Eur J Med Chem. 2017 Feb 15;127:859-873. doi: 10.1016/j.ejmech.2016.10.064.

PMID:
27842893
16.

FHF1 (FGF12) epileptic encephalopathy.

Al-Mehmadi S, Splitt M; For DDD Study group*., Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA; For CENet Study group‡..

Neurol Genet. 2016 Oct 28;2(6):e115.

17.

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE.

Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316.

18.

Identification of crucial miRNAs and the targets in renal cortex of hypertensive patients by expression profiles.

Wang G, Wu L, Chen Z, Sun J.

Ren Fail. 2017 Nov;39(1):92-99. doi: 10.1080/0886022X.2016.1244083.

PMID:
27802793
19.

Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers.

Fricke-Galindo I, Ortega-Vázquez A, Monroy-Jaramillo N, Dorado P, Jung-Cook H, Peñas-Lledó E, LLerena A, López-López M.

Pharmacogenomics. 2016 Oct 28. [Epub ahead of print]

PMID:
27790929
20.

Precision medicine in genetic epilepsies: break of dawn?

Reif PS, Tsai MH, Helbig I, Rosenow F, Klein KM.

Expert Rev Neurother. 2016 Nov 10:1-12. [Epub ahead of print]

PMID:
27781560
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