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Journal Abstract Search

178 related items for PubMed ID: 15596769

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  • 4. A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.
    Lee WL, Biervert C, Hallmann K, Tay A, Dean JC, Steinlein OK.
    Neuropediatrics; 2000 Feb; 31(1):9-12. PubMed ID: 10774989
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  • 5. Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.
    Pereira S, Roll P, Krizova J, Genton P, Brazdil M, Kuba R, Cau P, Rektor I, Szepetowski P.
    Epilepsia; 2004 Apr; 45(4):384-90. PubMed ID: 15030501
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  • 6. A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).
    Yalçin O, Cağlayan SH, Saltik S, Cokar O, Ağan K, Dervent A, Steinlein OK.
    Turk J Pediatr; 2007 Apr; 49(4):385-9. PubMed ID: 18246739
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  • 7. 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. PubMed ID: 23146207
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  • 8. Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
    Bassi MT, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri MV, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M.
    Neurogenetics; 2005 Dec; 6(4):185-93. PubMed ID: 16235065
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  • 9. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
    Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT.
    Neurology; 2004 Jul 13; 63(1):57-65. PubMed ID: 15249611
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  • 10. The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
    Yum MS, Ko TS, Yoo HW.
    J Korean Med Sci; 2010 Feb 13; 25(2):324-6. PubMed ID: 20119593
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  • 11. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
    Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC.
    J Med Genet; 2007 Dec 13; 44(12):791-6. PubMed ID: 17675531
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  • 12. 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 13; 54(3):425-36. PubMed ID: 23360469
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  • 13. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
    Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK.
    Proc Natl Acad Sci U S A; 2001 Oct 09; 98(21):12272-7. PubMed ID: 11572947
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  • 16. [A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].
    Li HY, Tang BS, Zhang AM, Cao QH, Meng GL, Jiang H, Shen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Dec 09; 20(6):482-5. PubMed ID: 14669214
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  • 17. 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 09; 35(3):356-67. PubMed ID: 24375629
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  • 18. Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.
    Singh NA, Otto JF, Dahle EJ, Pappas C, Leslie JD, Vilaythong A, Noebels JL, White HS, Wilcox KS, Leppert MF.
    J Physiol; 2008 Jul 15; 586(14):3405-23. PubMed ID: 18483067
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