Format
Sort by
Items per page

Send to

Choose Destination

Links from MedGen

Items: 1 to 20 of 27

1.

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
2.

An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.

Chen CP, Lin SP, Liu YP, Chern SR, Wu PS, Su JW, Chen YT, Lee CC, Wang W.

Gene. 2013 Oct 15;529(1):176-80. doi: 10.1016/j.gene.2013.07.045. Epub 2013 Aug 7.

PMID:
23933416
3.

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.

4.

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

Fister P, Soltirovska-Salamon A, Debeljak M, Paro-Panjan D.

Eur J Paediatr Neurol. 2013 May;17(3):308-10. doi: 10.1016/j.ejpn.2012.10.007. Epub 2012 Nov 10.

PMID:
23146207
5.

A systematic review of the pharmacokinetics of antiepileptic drugs in neonates with refractory seizures.

Tulloch JK, Carr RR, Ensom MH.

J Pediatr Pharmacol Ther. 2012 Jan;17(1):31-44. doi: 10.5863/1551-6776-17.1.31.

6.

Retigabine as adjunctive therapy in adults with partial-onset seizures: integrated analysis of three pivotal controlled trials.

Porter RJ, Burdette DE, Gil-Nagel A, Hall ST, White R, Shaikh S, DeRossett SE.

Epilepsy Res. 2012 Aug;101(1-2):103-12. doi: 10.1016/j.eplepsyres.2012.03.010. Epub 2012 Apr 16.

PMID:
22512894
7.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.

Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.

8.

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2009 Sep-Oct;52(5):353-7. doi: 10.1016/j.ejmg.2009.05.006. Epub 2009 May 21.

PMID:
19464398
9.

A KCNQ channel opener for experimental neonatal seizures and status epilepticus.

Raol YH, Lapides DA, Keating JG, Brooks-Kayal AR, Cooper EC.

Ann Neurol. 2009 Mar;65(3):326-36. doi: 10.1002/ana.21593.

10.

Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations.

Soldovieri MV, Miceli F, Bellini G, Coppola G, Pascotto A, Taglialatela M.

Channels (Austin). 2007 Jul-Aug;1(4):228-33. Epub 2007 Aug 2.

PMID:
18698150
11.

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T.

Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec.

PMID:
18625963
12.

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.

Li H, Li N, Shen L, Jiang H, Yang Q, Song Y, Guo J, Xia K, Pan Q, Tang B.

Epilepsy Res. 2008 Mar;79(1):1-5. doi: 10.1016/j.eplepsyres.2007.12.005. Epub 2008 Feb 4.

PMID:
18249525
13.

[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].

Li HY, Tang BS, Yan XX, Guo JF, Shen L, Song YM, Jiang H, Xia K, Xie ZG, Yang QA.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):374-7. Chinese.

PMID:
16883520
14.

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.

Zhou X, Ma A, Liu X, Huang C, Zhang Y, Shi R, Mao S, Geng T, Li S.

Eur J Pediatr. 2006 Oct;165(10):691-5. Epub 2006 May 12.

PMID:
16691402
15.

A novel SCN2A mutation in family with benign familial infantile seizures.

Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F.

Epilepsia. 2006 Jan;47(1):218-20.

16.

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF; BFNC Physician Consortium.

Brain. 2003 Dec;126(Pt 12):2726-37. Epub 2003 Oct 8.

PMID:
14534157
17.

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology.

Engel J Jr; International League Against Epilepsy (ILAE).

Epilepsia. 2001 Jun;42(6):796-803. No abstract available.

18.

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P.

Am J Hum Genet. 2001 Mar;68(3):788-94. Epub 2001 Feb 13.

19.

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.

Hirose S, Zenri F, Akiyoshi H, Fukuma G, Iwata H, Inoue T, Yonetani M, Tsutsumi M, Muranaka H, Kurokawa T, Hanai T, Wada K, Kaneko S, Mitsudome A.

Ann Neurol. 2000 Jun;47(6):822-6.

PMID:
10852552
20.

A potassium channel mutation in neonatal human epilepsy.

Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK.

Science. 1998 Jan 16;279(5349):403-6.

Supplemental Content

Support Center