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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: baulac s. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
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: baulac m, baulac s. Lancet Neurol. 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. Lancet Neurol. 2004. PMID: 15039033 Review.
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: baulac m. Lancet Neurol. 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. Lancet Neurol. 2004. PMID: 15207799 Review.
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Chabrol E, Gourfinkel-An I, Scheffer IE, Picard F, Couarch P, Berkovic SF, McMahon JM, Bajaj N, Mota-Vieira L, Mota R, Trouillard O, Depienne C, Baulac M, LeGuern E, Baulac S. Chabrol E, et al. Among authors: baulac m, baulac s. Epilepsy Res. 2007 Aug;76(1):41-8. doi: 10.1016/j.eplepsyres.2007.06.014. Epub 2007 Aug 6. Epilepsy Res. 2007. PMID: 17681454
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E. Depienne C, et al. Among authors: baulac s. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free article.
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: baulac s. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
118 results