Mantegazza M - Search Results

1

Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE).

Binini N, Sancini G, Villa C, Dal Magro R, Sansoni V, Rusconi R, Mantegazza M, Grioni D, Talpo F, Toselli M, Combi R. Binini N, et al. Among authors: mantegazza m. Brain Res. 2017 Dec 15;1677:26-32. doi: 10.1016/j.brainres.2017.09.023. Epub 2017 Sep 23. Brain Res. 2017. PMID: 28951233

2

Inhibition of transient and persistent Na+ current fractions by the new anticonvulsant topiramate.

Taverna S, Sancini G, Mantegazza M, Franceschetti S, Avanzini G. Taverna S, et al. Among authors: mantegazza m. J Pharmacol Exp Ther. 1999 Mar;288(3):960-8. J Pharmacol Exp Ther. 1999. PMID: 10027832

3

Protein-kinase C-dependent phosphorylation inhibits the effect of the antiepileptic drug topiramate on the persistent fraction of sodium currents.

Curia G, Aracri P, Sancini G, Mantegazza M, Avanzini G, Franceschetti S. Curia G, et al. Among authors: mantegazza m. Neuroscience. 2004;127(1):63-8. doi: 10.1016/j.neuroscience.2004.04.040. Neuroscience. 2004. PMID: 15219669

4

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.

Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. Mantegazza M, et al. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. doi: 10.1073/pnas.0506818102. Epub 2005 Dec 2. Proc Natl Acad Sci U S A. 2005. PMID: 16326807 Free PMC article.

5

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

Scalmani P, Rusconi R, Armatura E, Zara F, Avanzini G, Franceschetti S, Mantegazza M. Scalmani P, et al. Among authors: mantegazza m. J Neurosci. 2006 Oct 4;26(40):10100-9. doi: 10.1523/JNEUROSCI.2476-06.2006. J Neurosci. 2006. PMID: 17021166 Free PMC article.

6

Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.

Colosimo E, Gambardella A, Mantegazza M, Labate A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. Colosimo E, et al. Among authors: mantegazza m. Epilepsia. 2007 Sep;48(9):1691-1696. doi: 10.1111/j.1528-1167.2007.01153.x. Epub 2007 Jun 12. Epilepsia. 2007. PMID: 17565594 Free article.

7

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

Rusconi R, Scalmani P, Cassulini RR, Giunti G, Gambardella A, Franceschetti S, Annesi G, Wanke E, Mantegazza M. Rusconi R, et al. Among authors: mantegazza m. J Neurosci. 2007 Oct 10;27(41):11037-46. doi: 10.1523/JNEUROSCI.3515-07.2007. J Neurosci. 2007. PMID: 17928445 Free PMC article.

8

Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.

Cestèle S, Scalmani P, Rusconi R, Terragni B, Franceschetti S, Mantegazza M. Cestèle S, et al. Among authors: mantegazza m. J Neurosci. 2008 Jul 16;28(29):7273-83. doi: 10.1523/JNEUROSCI.4453-07.2008. J Neurosci. 2008. PMID: 18632931 Free PMC article.

9

A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?

Rusconi R, Combi R, Cestèle S, Grioni D, Franceschetti S, Dalprà L, Mantegazza M. Rusconi R, et al. Among authors: mantegazza m. Hum Mutat. 2009 Jul;30(7):E747-60. doi: 10.1002/humu.21041. Hum Mutat. 2009. PMID: 19402159

10

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, Tufik S, Yu FH, Catterall WA, Mantegazza M, Goldin AL, Escayg A. Tang B, et al. Among authors: mantegazza m. Neurobiol Dis. 2009 Jul;35(1):91-102. doi: 10.1016/j.nbd.2009.04.007. Epub 2009 May 3. Neurobiol Dis. 2009. PMID: 19409490 Free PMC article.

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