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Results: 1 to 20 of 125

Similar articles for PubMed (Select 19344764)

1.

Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures.

Miceli F, Soldovieri MV, Lugli L, Bellini G, Ambrosino P, Migliore M, del Giudice EM, Ferrari F, Pascotto A, Taglialatela M.

Neurobiol Dis. 2009 Jun;34(3):501-10. doi: 10.1016/j.nbd.2009.03.009. Epub 2009 Apr 1. Erratum in: Neurobiol Dis. 2009 Aug;35(2):318.

PMID:
19344764
2.

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, Taglialatela M.

J Neurosci. 2015 Mar 4;35(9):3782-93. doi: 10.1523/JNEUROSCI.4423-14.2015.

PMID:
25740509
3.

Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures.

Pascual FT, Wierenga KJ, Ng YT.

Epilepsy Behav Case Rep. 2013 Mar 1;1:35-8. doi: 10.1016/j.ebcr.2013.01.004. eCollection 2013.

4.

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Miceli F, Striano P, Soldovieri MV, Fontana A, Nardello R, Robbiano A, Bellini G, Elia M, Zara F, Taglialatela M, Mangano S.

Epilepsia. 2015 Feb;56(2):e15-20. doi: 10.1111/epi.12887. Epub 2014 Dec 19.

PMID:
25524373
5.

Cortical KCNQ2/3 channels; insights from knockout mice.

Soh H, Niday Z, Tzingounis AV.

Channels (Austin). 2014;8(5):389-90. doi: 10.4161/19336950.2014.948755. No abstract available.

PMID:
25483580
6.

Potassium channel genes and benign familial neonatal epilepsy.

Maljevic S, Lerche H.

Prog Brain Res. 2014;213:17-53. doi: 10.1016/B978-0-444-63326-2.00002-8. Review.

PMID:
25194482
7.

Conditional deletions of epilepsy-associated KCNQ2 and KCNQ3 channels from cerebral cortex cause differential effects on neuronal excitability.

Soh H, Pant R, LoTurco JJ, Tzingounis AV.

J Neurosci. 2014 Apr 9;34(15):5311-21. doi: 10.1523/JNEUROSCI.3919-13.2014.

8.

The kick-in system: a novel rapid knock-in strategy.

Tomonoh Y, Deshimaru M, Araki K, Miyazaki Y, Arasaki T, Tanaka Y, Kitamura H, Mori F, Wakabayashi K, Yamashita S, Saito R, Itoh M, Uchida T, Yamada J, Migita K, Ueno S, Kitaura H, Kakita A, Lossin C, Takano Y, Hirose S.

PLoS One. 2014 Feb 19;9(2):e88549. doi: 10.1371/journal.pone.0088549. eCollection 2014.

9.

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.

Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13.

PMID:
24375629
10.

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Numis AL, Angriman M, Sullivan JE, Lewis AJ, Striano P, Nabbout R, Cilio MR.

Neurology. 2014 Jan 28;82(4):368-70. doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.

11.

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, Maljevic S.

Ann Neurol. 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18.

PMID:
24318194
12.

Reply: To PMID 24243345.

Poduri A, Salih M, Walsh CA.

Ann Neurol. 2014 Feb;75(2):326. doi: 10.1002/ana.24055. Epub 2014 Jan 2. No abstract available.

PMID:
24242934
13.

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

Lauxmann S, Boutry-Kryza N, Rivier C, Mueller S, Hedrich UB, Maljevic S, Szepetowski P, Lerche H, Lesca G.

Epilepsia. 2013 Sep;54(9):e117-21. doi: 10.1111/epi.12241. Epub 2013 Jun 12.

PMID:
23758435
14.

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L.

Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.

15.

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M.

Proc Natl Acad Sci U S A. 2013 Mar 12;110(11):4386-91. doi: 10.1073/pnas.1216867110. Epub 2013 Feb 25.

16.

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C.

Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.

PMID:
23360469
17.

A basic residue in the proximal C-terminus is necessary for efficient activation of the M-channel subunit Kv7.2 by PI(4,5)P₂.

Telezhkin V, Thomas AM, Harmer SC, Tinker A, Brown DA.

Pflugers Arch. 2013 Jul;465(7):945-53. doi: 10.1007/s00424-012-1199-3. Epub 2013 Jan 6.

18.

Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.

Saadeldin IY, Milhem RM, Al-Gazali L, Ali BR.

Pediatr Neurol. 2013 Jan;48(1):63-6. doi: 10.1016/j.pediatrneurol.2012.09.012.

PMID:
23290024
19.

A conserved threonine in the S1-S2 loop of KV7.2 and K V7.3 channels regulates voltage-dependent activation.

Füll Y, Seebohm G, Lerche H, Maljevic S.

Pflugers Arch. 2013 Jun;465(6):797-804. doi: 10.1007/s00424-012-1184-x. Epub 2012 Dec 28.

PMID:
23271449
20.

Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals.

Lichter-Peled A, Polani S, Stanyon R, Rocchi M, Kahila Bar-Gal G.

Vet J. 2013 Apr;196(1):57-63. doi: 10.1016/j.tvjl.2012.08.024. Epub 2012 Nov 20.

PMID:
23182620
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