Coppola G - Search Results

1

Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.

Rizzo F, Ambrosino P, Guacci A, Chetta M, Marchese G, Rocco T, Soldovieri MV, Manocchio L, Mosca I, Casara G, Vecchi M, Taglialatela M, Coppola G, Weisz A. Rizzo F, et al. Among authors: coppola g. Mol Cell Neurosci. 2016 Apr;72:54-63. doi: 10.1016/j.mcn.2016.01.004. Epub 2016 Jan 16. Mol Cell Neurosci. 2016. PMID: 26784557

2

Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.

Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M. Castaldo P, et al. Among authors: coppola g. J Neurosci. 2002 Jan 15;22(2):RC199. doi: 10.1523/JNEUROSCI.22-02-j0003.2002. J Neurosci. 2002. PMID: 11784811 Free PMC article.

3

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. Neurology. 2003 Jul 8;61(1):131-4. doi: 10.1212/01.wnl.0000069465.53698.bd. Neurology. 2003. PMID: 12847176

4

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: coppola 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.

5

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. 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

6

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: coppola 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.

7

Malignant migrating partial seizures in infancy.

Coppola G. Coppola G. Handb Clin Neurol. 2013;111:605-9. doi: 10.1016/B978-0-444-52891-9.00062-2. Handb Clin Neurol. 2013. PMID: 23622207 Review.

8

Lack of pathogenic mutations in six patients with MMPSI.

De Filippo MR, Rizzo F, Marchese G, Giurato G, Nassa G, Ravo M, Tarallo R, Pironti E, Vecchi M, Crichiutti G, Capizzi G, Verrotti A, Weisz A, Coppola G. De Filippo MR, et al. Among authors: coppola g. Epilepsy Res. 2014 Feb;108(2):340-4. doi: 10.1016/j.eplepsyres.2013.11.007. Epub 2013 Nov 16. Epilepsy Res. 2014. PMID: 24315024

9

Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations.

Guacci A, Chetta M, Rizzo F, Marchese G, De Filippo MR, Giurato G, Nassa G, Ravo M, Tarallo R, Rocco T, Operto FF, Weisz A, Coppola G. Guacci A, et al. Among authors: coppola g. Seizure. 2016 Jan;34:26-8. doi: 10.1016/j.seizure.2015.11.004. Epub 2015 Nov 21. Seizure. 2016. PMID: 26658169 Free article. No abstract available.

10

Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.

Marchese G, Rizzo F, Guacci A, Weisz A, Coppola G. Marchese G, et al. Among authors: coppola g. Neurol Sci. 2016 May;37(5):829-31. doi: 10.1007/s10072-016-2482-4. Epub 2016 Jan 20. Neurol Sci. 2016. PMID: 26792009 No abstract available.

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