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Results: 4

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.

Maljevic S, Naros G, Yalçin Ö, Blazevic D, Loeffler H, Cağlayan H, Steinlein OK, Lerche H.

Hum Mutat. 2011 Oct;32(10):E2283-93. doi: 10.1002/humu.21554.

PMID:
21913284
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]

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