Nabbout R - Search Results

1

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. Depienne C, et al. Among authors: nabbout r. J Med Genet. 2009 Mar;46(3):183-91. doi: 10.1136/jmg.2008.062323. Epub 2008 Oct 17. J Med Genet. 2009. PMID: 18930999

2

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O. Nabbout R, et al. Epilepsy Res. 2003 Oct;56(2-3):127-33. doi: 10.1016/j.eplepsyres.2003.08.007. Epilepsy Res. 2003. PMID: 14642997

3

Monogenic idiopathic epilepsies.

Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E. Gourfinkel-An I, et al. Among authors: nabbout r. Lancet Neurol. 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. Lancet Neurol. 2004. PMID: 15039033 Review.

4

Fever, genes, and epilepsy.

Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M. Baulac S, et al. Among authors: nabbout r. Lancet Neurol. 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. Lancet Neurol. 2004. PMID: 15207799 Review.

5

[Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions].

Gourfinkel-An I, Baulac S, Nabbout R, Brice A, Baulac M, Leguern E. Gourfinkel-An I, et al. Among authors: nabbout r. Rev Neurol (Paris). 2004 May;160(5 Pt 2):S90-7. doi: 10.1016/s0035-3787(04)71011-5. Rev Neurol (Paris). 2004. PMID: 15269666 Review. French.

6

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E. Depienne C, et al. Among authors: nabbout r. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9419. Hum Mutat. 2006. PMID: 16541393

7

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

Nabbout R, Baulac S, Desguerre I, Bahi-Buisson N, Chiron C, Ruberg M, Dulac O, LeGuern E. Nabbout R, et al. Neurology. 2007 Apr 24;68(17):1374-81. doi: 10.1212/01.wnl.0000260062.02829.e3. Neurology. 2007. PMID: 17452582

8

An unexpected EEG course in Dravet syndrome.

Nabbout R, Desguerre I, Sabbagh S, Depienne C, Plouin P, Dulac O, Chiron C. Nabbout R, et al. Epilepsy Res. 2008 Sep;81(1):90-5. doi: 10.1016/j.eplepsyres.2008.04.015. Epub 2008 Jun 6. Epilepsy Res. 2008. PMID: 18539001

9

A novel locus for generalized epilepsy with febrile seizures plus in French families.

Baulac S, Gourfinkel-An I, Couarch P, Depienne C, Kaminska A, Dulac O, Baulac M, LeGuern E, Nabbout R. Baulac S, et al. Among authors: nabbout r. Arch Neurol. 2008 Jul;65(7):943-51. doi: 10.1001/archneur.65.7.943. Arch Neurol. 2008. PMID: 18625863

10

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C. Saint-Martin C, et al. Among authors: nabbout r. Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876. Hum Mutat. 2009. PMID: 19191339

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