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Page 1
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.
Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P, Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, Baulac M, Mundwiller E, Couarch P, Combi R, Ferini-Strambi L, Gambardella A, Antonarakis SE, Leguern E, Steinlein O, Baulac S. Picard F, et al. Among authors: leguern e. Neurology. 2014 Jun 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9. Neurology. 2014. PMID: 24814846
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: leguern e. Lancet Neurol. 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. Lancet Neurol. 2004. PMID: 15207799 Review.
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: leguern e. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Couarch P, Vernia S, Gourfinkel-An I, Lesca G, Gataullina S, Fedirko E, Trouillard O, Depienne C, Dulac O, Steschenko D, Leguern E, Sanz P, Baulac S. Couarch P, et al. Among authors: leguern e. J Mol Med (Berl). 2011 Sep;89(9):915-25. doi: 10.1007/s00109-011-0758-y. Epub 2011 Apr 20. J Mol Med (Berl). 2011. PMID: 21505799 Free PMC article.
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.
Boillot M, Huneau C, Marsan E, Lehongre K, Navarro V, Ishida S, Dufresnois B, Ozkaynak E, Garrigue J, Miles R, Martin B, Leguern E, Anderson MP, Baulac S. Boillot M, et al. Among authors: leguern e. Brain. 2014 Nov;137(Pt 11):2984-96. doi: 10.1093/brain/awu259. Epub 2014 Sep 17. Brain. 2014. PMID: 25234641 Free PMC article.
SCN1A-related epilepsy with recessive inheritance: Two further families.
Moretti R, Arnaud L, Bouteiller D, Trouillard O, Moreau P, Buratti J, Rastetter A, Keren B, Des Portes V, Toulouse J, Gourfinkel-An I, Leguern E, Depienne C, Mignot C, Nava C. Moretti R, et al. Among authors: leguern e. Eur J Paediatr Neurol. 2021 Jul;33:121-124. doi: 10.1016/j.ejpn.2021.05.018. Epub 2021 Jun 5. Eur J Paediatr Neurol. 2021. PMID: 34174751
242 results