Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 323

1.

Calmodulin and Ca2+ control of voltage gated Na+ channels.

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

Channels (Austin). 2015 Jul 28:0. [Epub ahead of print]

PMID:
26218606
2.

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Rees E, Kirov G, Walters JT, Richards AL, Howrigan D, Kavanagh DH, Pocklington AJ, Fromer M, Ruderfer DM, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Tsuang MT, Glatt SJ, Chen WJ, Hwu HG; Taiwanese Trios Exome Sequencing Consortium, Neale BM, Palotie A, Sklar P, Purcell SM, McCarroll SA, Holmans P, Owen MJ, O'Donovan MC.

Transl Psychiatry. 2015 Jul 21;5:e607. doi: 10.1038/tp.2015.99.

PMID:
26196440
3.

Investigation of genes important in neurodevelopment disorders in adult human brain.

Maussion G, Diallo AB, Gigek CO, Chen ES, Crapper L, Théroux JF, Chen GG, Vasuta C, Ernst C.

Hum Genet. 2015 Jul 21. [Epub ahead of print]

PMID:
26194112
4.

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
5.

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca G.

Clin Genet. 2015 Jul 3. doi: 10.1111/cge.12636. [Epub ahead of print]

PMID:
26138355
6.

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.

PMID:
25982755
7.

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I.

Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.

8.

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):1766-1774. Epub 2015 May 11.

PMID:
25961639
9.

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

Kwong AK, Ho AC, Fung CW, Wong VC.

PLoS One. 2015 May 7;10(5):e0126446. doi: 10.1371/journal.pone.0126446. eCollection 2015.

10.

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

Li J, Cai T, Jiang Y, Chen H, He X, Chen C, Li X, Shao Q, Ran X, Li Z, Xia K, Liu C, Sun ZS, Wu J.

Mol Psychiatry. 2015 Apr 7. doi: 10.1038/mp.2015.40. [Epub ahead of print]

PMID:
25849321
11.

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 Apr 2. pii: S0387-7604(15)00063-7. doi: 10.1016/j.braindev.2015.03.001. [Epub ahead of print]

PMID:
25843248
12.

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
13.

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 3rd.

Epilepsia. 2015 May;56(5):707-16. doi: 10.1111/epi.12954. Epub 2015 Mar 25.

PMID:
25818041
14.

De novo R853Q mutation of SCN2A gene and West syndrome.

Samanta D, Ramakrishnaiah R.

Acta Neurol Belg. 2015 Mar 15. [Epub ahead of print] No abstract available.

PMID:
25772804
15.

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS.

Epilepsy Res. 2015 Jan;109:34-9. doi: 10.1016/j.eplepsyres.2014.10.008. Epub 2014 Oct 28.

PMID:
25524840
16.

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G.

Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11.

PMID:
25497044
17.

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.

Wong VC, Fung CW, Kwong AK.

Brain Dev. 2015 Aug;37(7):729-32. doi: 10.1016/j.braindev.2014.10.008. Epub 2014 Nov 7.

PMID:
25459969
18.

A case of recurrent encephalopathy with SCN2A missense mutation.

Fukasawa T, Kubota T, Negoro T, Saitoh M, Mizuguchi M, Ihara Y, Ishii A, Hirose S.

Brain Dev. 2015 Jun;37(6):631-4. doi: 10.1016/j.braindev.2014.10.001. Epub 2014 Oct 27.

PMID:
25457084
19.

'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.

Gazina EV, Leaw BT, Richards KL, Wimmer VC, Kim TH, Aumann TD, Featherby TJ, Churilov L, Hammond VE, Reid CA, Petrou S.

Hum Mol Genet. 2015 Mar 1;24(5):1457-68. doi: 10.1093/hmg/ddu562. Epub 2014 Nov 6.

PMID:
25378553
20.

Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read.

Buchhalter J.

Epilepsy Curr. 2014 Sep;14(5):253-4. doi: 10.5698/1535-7597-14.5.253. No abstract available.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk