Combi R - 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: combi r. 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

Two new putative susceptibility loci for ADNFLE.

Combi R, Ferini-Strambi L, Montruccoli A, Bianchi V, Malcovati M, Zucconi M, Dalprà L, Tenchini ML. Combi R, et al. Brain Res Bull. 2005 Oct 30;67(4):257-63. doi: 10.1016/j.brainresbull.2005.06.032. Brain Res Bull. 2005. PMID: 16182932

3

Gene symbol: SCN1A.

Combi R, Grioni D, Tenchini ML, Bertolini M, Tredici G, Dalpra L. Combi R, et al. Hum Genet. 2007 Feb;120(6):911. Hum Genet. 2007. PMID: 17438605 No abstract available.

4

Gene symbol: SCN1A.

Combi R, Grioni D, Tenchini ML, Bertolini M, Tredici G, Dalpra L. Combi R, et al. Hum Genet. 2007 Feb;120(6):916. Hum Genet. 2007. PMID: 17438620 No abstract available.

5

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.

Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, Barisani D, Lavitrano ML, Tredici G, Tenchini ML, Bertolini M, Dalprà L. Combi R, et al. Brain Res Bull. 2009 Apr 29;79(2):89-96. doi: 10.1016/j.brainresbull.2009.01.008. Epub 2009 Feb 5. Brain Res Bull. 2009. PMID: 19200853

6

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: combi r. Hum Mutat. 2009 Jul;30(7):E747-60. doi: 10.1002/humu.21041. Hum Mutat. 2009. PMID: 19402159

7

Clinical and genetic evaluation of a family showing both autism and epilepsy.

Combi R, Redaelli S, Beghi M, Clerici M, Cornaggia CM, Dalprà L. Combi R, et al. Brain Res Bull. 2010 Apr 29;82(1-2):25-8. doi: 10.1016/j.brainresbull.2010.02.004. Epub 2010 Feb 10. Brain Res Bull. 2010. PMID: 20152887

8

A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy.

Sansoni V, Nobili L, Proserpio P, Ferini-Strambi L, Combi R. Sansoni V, et al. Among authors: combi r. J Sleep Res. 2012 Jun;21(3):352-3. doi: 10.1111/j.1365-2869.2011.00986.x. Epub 2011 Nov 25. J Sleep Res. 2012. PMID: 22118295 No abstract available.

9

Nocturnal frontal lobe epilepsy and the acetylcholine receptor.

Ferini-Strambi L, Sansoni V, Combi R. Ferini-Strambi L, et al. Among authors: combi r. Neurologist. 2012 Nov;18(6):343-9. doi: 10.1097/NRL.0b013e31826a99b8. Neurologist. 2012. PMID: 23114665 Review.

10

Functional characterization of a CRH missense mutation identified in an ADNFLE family.

Sansoni V, Forcella M, Mozzi A, Fusi P, Ambrosini R, Ferini-Strambi L, Combi R. Sansoni V, et al. Among authors: combi r. PLoS One. 2013 Apr 11;8(4):e61306. doi: 10.1371/journal.pone.0061306. Print 2013. PLoS One. 2013. PMID: 23593457 Free PMC article.

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