Bellini G - Search Results

1

Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.

Soldovieri MV, Castaldo P, Iodice L, Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M. Soldovieri MV, et al. Among authors: bellini g. J Biol Chem. 2006 Jan 6;281(1):418-28. doi: 10.1074/jbc.M510980200. Epub 2005 Oct 31. J Biol Chem. 2006. PMID: 16260777 Free article.

2

A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.

Castaldo P, Stefanoni P, Miceli F, Coppola G, Del Giudice EM, Bellini G, Pascotto A, Trudell JR, Harrison NL, Annunziato L, Taglialatela M. Castaldo P, et al. Among authors: bellini g. J Biol Chem. 2004 Jun 11;279(24):25598-604. doi: 10.1074/jbc.M311021200. Epub 2004 Apr 5. J Biol Chem. 2004. PMID: 15066993 Free article.

3

Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M. Soldovieri MV, et al. Among authors: bellini g. J Neurosci. 2007 May 2;27(18):4919-28. doi: 10.1523/JNEUROSCI.0580-07.2007. J Neurosci. 2007. PMID: 17475800 Free PMC article.

4

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. Soldovieri MV, et al. Among authors: bellini g. Channels (Austin). 2007 Jul-Aug;1(4):228-33. doi: 10.4161/chan.4823. Epub 2007 Aug 2. Channels (Austin). 2007. PMID: 18698150 Free article.

5

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. Miceli F, et al. Among authors: bellini g. Neurobiol Dis. 2009 Jun;34(3):501-10. doi: 10.1016/j.nbd.2009.03.009. Epub 2009 Apr 1. Neurobiol Dis. 2009. PMID: 19344764

6

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. Miceli F, et al. Among authors: bellini g. Epilepsia. 2015 Feb;56(2):e15-20. doi: 10.1111/epi.12887. Epub 2014 Dec 19. Epilepsia. 2015. PMID: 25524373 Free article.

7

Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A. Miraglia del Giudice E, et al. Among authors: bellini g. Eur J Hum Genet. 2000 Dec;8(12):994-7. doi: 10.1038/sj.ejhg.5200570. Eur J Hum Genet. 2000. PMID: 11175290

8

A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.

Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri MV, Anzalone L, Sferro C, Annunziato L, Pascotto A, Taglialatela M. Coppola G, et al. Among authors: bellini g. Neurology. 2003 Jul 8;61(1):131-4. doi: 10.1212/01.wnl.0000069465.53698.bd. Neurology. 2003. PMID: 12847176

9

Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy.

Coppola G, Veggiotti P, Del Giudice EM, Bellini G, Longaretti F, Taglialatela M, Pascotto A. Coppola G, et al. Among authors: bellini g. Brain Dev. 2006 Mar;28(2):76-9. doi: 10.1016/j.braindev.2005.05.002. Epub 2005 Sep 15. Brain Dev. 2006. PMID: 16168594

10

Familial occurrence of early-onset childhood absence epilepsy.

Titomanlio L, Romano A, Bellini G, Pascotto A, Iuliano R, Miraglia Del Giudice E, Del Giudice E. Titomanlio L, et al. Among authors: bellini g. Eur J Paediatr Neurol. 2007 May;11(3):178-80. doi: 10.1016/j.ejpn.2006.12.005. Epub 2007 Jan 30. Eur J Paediatr Neurol. 2007. PMID: 17267250

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