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Results: 1 to 20 of 118

Similar articles for PubMed (Select 24747641)

1.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium, Haaf T, LeGuern E, Depienne C.

Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20.

PMID:
24747641
2.

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.

Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc.

3.

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH.

Neurobiol Dis. 2014 Sep;69:117-23. doi: 10.1016/j.nbd.2014.05.017. Epub 2014 May 27.

4.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF.

Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.

5.

De novo KCNB1 mutations in epileptic encephalopathy.

Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA.

Ann Neurol. 2014 Oct;76(4):529-40. doi: 10.1002/ana.24263. Epub 2014 Sep 19.

PMID:
25164438
6.

Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.

Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Lossin C, Baram TZ, Hirose S.

PLoS One. 2013 Dec 4;8(12):e80376. doi: 10.1371/journal.pone.0080376. eCollection 2013.

7.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.

Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.

PMID:
24888894
8.

Hyperpolarization-activated cyclic nucleotide gated channels: a potential molecular link between epileptic seizures and Aβ generation in Alzheimer's disease.

Saito Y, Inoue T, Zhu G, Kimura N, Okada M, Nishimura M, Kimura N, Murayama S, Kaneko S, Shigemoto R, Imoto K, Suzuki T.

Mol Neurodegener. 2012 Oct 3;7:50. doi: 10.1186/1750-1326-7-50.

9.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.

Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.

10.

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.

Tang B, Sander T, Craven KB, Hempelmann A, Escayg A.

Neurobiol Dis. 2008 Jan;29(1):59-70. Epub 2007 Aug 24.

11.

HCN1 subunits contribute to the kinetics of I(h) in neonatal cortical plate neurons.

Stoenica L, Wilkars W, Battefeld A, Stadler K, Bender R, Strauss U.

Dev Neurobiol. 2013 Oct;73(10):785-97. doi: 10.1002/dneu.22104. Epub 2013 Aug 20.

PMID:
23821600
12.

Filamin A promotes dynamin-dependent internalization of hyperpolarization-activated cyclic nucleotide-gated type 1 (HCN1) channels and restricts Ih in hippocampal neurons.

Noam Y, Ehrengruber MU, Koh A, Feyen P, Manders EM, Abbott GW, Wadman WJ, Baram TZ.

J Biol Chem. 2014 Feb 28;289(9):5889-903. doi: 10.1074/jbc.M113.522060. Epub 2014 Jan 8.

13.

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.

BMC Med Genet. 2014 Feb 25;15:24. doi: 10.1186/1471-2350-15-24.

14.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318
15.

Subunit-specific effects of isoflurane on neuronal Ih in HCN1 knockout mice.

Chen X, Shu S, Kennedy DP, Willcox SC, Bayliss DA.

J Neurophysiol. 2009 Jan;101(1):129-40. doi: 10.1152/jn.01352.2007. Epub 2008 Oct 29.

16.

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium.

Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25.

17.

Protein kinase C activation inhibits rat and human hyperpolarization activated cyclic nucleotide gated channel (HCN)1--mediated current in mammalian cells.

Reetz O, Strauss U.

Cell Physiol Biochem. 2013;31(4-5):532-41. doi: 10.1159/000350074. Epub 2013 Apr 3.

PMID:
23571312
19.

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R.

J Child Neurol. 2014 Feb;29(2):249-53. doi: 10.1177/0883073813506936. Epub 2013 Oct 29.

PMID:
24170257
20.
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