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Items: 1 to 50 of 74

1.

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S.

Acta Neuropathol. 2019 Aug 23. doi: 10.1007/s00401-019-02061-5. [Epub ahead of print]

PMID:
31444548
2.

Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.

Berrechid AG, Bendjebara M, Bouteiller D, Nasri A, Peuvion JN, Marie Y, Baulac S, Mrabet S, Ribierre T, Cazeneuve C, Imenkacem, Leguern E, Gouider R.

Epileptic Disord. 2019 Aug 1;21(4):359-365. doi: 10.1684/epd.2019.1078.

PMID:
31368437
3.

Treatment Responsiveness in KCNT1-Related Epilepsy.

Fitzgerald MP, Fiannacca M, Smith DM, Gertler TS, Gunning B, Syrbe S, Verbeek N, Stamberger H, Weckhuysen S, Ceulemans B, Schoonjans AS, Rossi M, Demarquay G, Lesca G, Olofsson K, Koolen DA, Hornemann F, Baulac S, Rubboli G, Minks KQ, Lee B, Helbig I, Dlugos D, Møller RS, Bearden D.

Neurotherapeutics. 2019 Jul;16(3):848-857. doi: 10.1007/s13311-019-00739-y.

PMID:
31054119
4.

[A second-hit somatic mutation drives neurodevelopmental epilepsy].

Ribierre T, Baulac S.

Med Sci (Paris). 2019 Apr;35(4):289-291. doi: 10.1051/medsci/2019058. Epub 2019 Apr 30. French. No abstract available.

PMID:
31038102
5.

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

Rubboli G, Plazzi G, Picard F, Nobili L, Hirsch E, Chelly J, Prayson RA, Boutonnat J, Bramerio M, Kahane P, Dibbens LM, Gardella E, Baulac S, Møller RS.

Ann Clin Transl Neurol. 2018 Dec 25;6(2):386-391. doi: 10.1002/acn3.708. eCollection 2019 Feb.

6.

Correction: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Aug;21(8):1896. doi: 10.1038/s41436-018-0325-9.

PMID:
30262923
7.

The Nogo Receptor Ligand LGI1 Regulates Synapse Number and Synaptic Activity in Hippocampal and Cortical Neurons.

Thomas RA, Gibon J, Chen CXQ, Chierzi S, Soubannier VG, Baulac S, Séguéla P, Murai K, Barker PA.

eNeuro. 2018 Sep 7;5(4). pii: ENEURO.0185-18.2018. doi: 10.1523/ENEURO.0185-18.2018. eCollection 2018 Jul-Aug.

8.

Correction to: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Jul;21(7):1671. doi: 10.1038/s41436-018-0284-1.

PMID:
30158694
9.

The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Erratum in: Genet Med. 2018 Aug 29;:. Genet Med. 2018 Sep 27;:.

10.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

11.

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Landoulsi Z, Laatar F, Noé E, Mrabet S, Ben Djebara M, Achaz G, Nava C, Baulac S, Kacem I, Gargouri-Berrechid A, Gouider R, Leguern E.

Neurogenetics. 2018 Aug;19(3):165-178. doi: 10.1007/s10048-018-0550-z. Epub 2018 Jun 12.

PMID:
29948376
12.

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

de Calbiac H, Dabacan A, Marsan E, Tostivint H, Devienne G, Ishida S, Leguern E, Baulac S, Muresan RC, Kabashi E, Ciura S.

Ann Clin Transl Neurol. 2018 Apr 6;5(5):510-523. doi: 10.1002/acn3.542. eCollection 2018 May.

13.

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.

Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M, Muraca G, Roussel D, Navarro V, Leguern E, Miles R, Baulac S.

J Clin Invest. 2018 Jun 1;128(6):2452-2458. doi: 10.1172/JCI99384. Epub 2018 Apr 30.

14.

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

Marsan E, Baulac S.

Neuropathol Appl Neurobiol. 2018 Feb;44(1):6-17. doi: 10.1111/nan.12463. Review.

15.

LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels.

Seagar M, Russier M, Caillard O, Maulet Y, Fronzaroli-Molinieres L, De San Feliciano M, Boumedine-Guignon N, Rodriguez L, Zbili M, Usseglio F, Formisano-Tréziny C, Youssouf F, Sangiardi M, Boillot M, Baulac S, Benitez MJ, Garrido JJ, Debanne D, El Far O.

Proc Natl Acad Sci U S A. 2017 Jul 18;114(29):7719-7724. doi: 10.1073/pnas.1618656114. Epub 2017 Jul 3.

16.

mTOR pathway in familial focal epilepsies.

Ribierre T, Baulac S.

Oncotarget. 2017 Jan 24;8(4):5674-5675. doi: 10.18632/oncotarget.14234. No abstract available.

17.

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S.

Neurol Genet. 2016 Oct 31;2(6):e118. eCollection 2016 Dec.

18.

DEPDC5-Related Epilepsy.

Baulac S, Weckhuysen S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Sep 29.

19.

mTOR signaling pathway genes in focal epilepsies.

Baulac S.

Prog Brain Res. 2016;226:61-79. doi: 10.1016/bs.pbr.2016.04.013. Epub 2016 Jun 7. Review.

PMID:
27323939
20.

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S.

Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13.

21.

Choking Fits During Sleep Related to Epilepsy.

Makrythanasis P, Behr C, Baulac S, Hirsch E, Picard F.

Am J Med. 2016 Aug;129(8):e137-8. doi: 10.1016/j.amjmed.2016.04.010. Epub 2016 May 3. No abstract available.

PMID:
27154776
22.

Novel GABRG2 mutations cause familial febrile seizures.

Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S.

Neurol Genet. 2015 Nov 4;1(4):e35. doi: 10.1212/NXG.0000000000000035. eCollection 2015 Dec.

23.

LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.

Boillot M, Lee CY, Allene C, Leguern E, Baulac S, Rouach N.

Sci Rep. 2016 Feb 16;6:21769. doi: 10.1038/srep21769.

24.

Depdc5 knockout rat: A novel model of mTORopathy.

Marsan E, Ishida S, Schramm A, Weckhuysen S, Muraca G, Lecas S, Liang N, Treins C, Pende M, Roussel D, Le Van Quyen M, Mashimo T, Kaneko T, Yamamoto T, Sakuma T, Mahon S, Miles R, Leguern E, Charpier S, Baulac S.

Neurobiol Dis. 2016 May;89:180-9. doi: 10.1016/j.nbd.2016.02.010. Epub 2016 Feb 9.

25.

Genetic models of focal epilepsies.

Boillot M, Baulac S.

J Neurosci Methods. 2016 Feb 15;260:132-43. doi: 10.1016/j.jneumeth.2015.06.003. Epub 2015 Jun 11. Review.

PMID:
26072248
26.

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F.

Ann Neurol. 2015 Apr;77(4):675-83. doi: 10.1002/ana.24368. Epub 2015 Mar 13.

PMID:
25623524
27.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.

Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.

PMID:
25362483
28.

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.

Brain. 2014 Nov;137(Pt 11):2984-96. doi: 10.1093/brain/awu259. Epub 2014 Sep 17.

29.

Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.

Baulac S.

Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7. Review.

PMID:
25194487
30.

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.

Neurology. 2014 Jun 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9.

PMID:
24814846
31.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium, Haaf T, LeGuern E, Depienne C.

Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20.

PMID:
24747641
32.

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E.

Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5.

33.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.

Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.

34.

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

Sadleir LG, Agher D, Chabrol E, Elkouby L, Leguern E, Paterson SJ, Harty R, Bellows ST, Berkovic SF, Scheffer IE, Baulac S.

Epilepsy Res. 2013 Dec;107(3):311-7. doi: 10.1016/j.eplepsyres.2013.09.008. Epub 2013 Oct 8.

PMID:
24206907
35.

Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.

Berghuis B, Brilstra EH, Lindhout D, Baulac S, de Haan GJ, van Kempen M.

Epilepsy Behav. 2013 Jul;28(1):41-6. doi: 10.1016/j.yebeh.2013.03.032. Epub 2013 May 5.

PMID:
23651915
36.

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S.

Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. Epub 2013 Mar 31.

37.

New analysis workflow for MALDI imaging mass spectrometry: application to the discovery and identification of potential markers of childhood absence epilepsy.

Lagarrigue M, Alexandrov T, Dieuset G, Perrin A, Lavigne R, Baulac S, Thiele H, Martin B, Pineau C.

J Proteome Res. 2012 Nov 2;11(11):5453-63. doi: 10.1021/pr3006974. Epub 2012 Oct 12.

PMID:
22994238
38.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

EPICURE Consortium; EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T.

Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4.

PMID:
22949513
39.

Genes in infantile epileptic encephalopathies.

Depienne C, Gourfinkel-An I, Baulac S, LeGuern E.

In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

40.

A rat model for LGI1-related epilepsies.

Baulac S, Ishida S, Mashimo T, Boillot M, Fumoto N, Kuwamura M, Ohno Y, Takizawa A, Aoto T, Ueda M, Ikeda A, LeGuern E, Takahashi R, Serikawa T.

Hum Mol Genet. 2012 Aug 15;21(16):3546-57. doi: 10.1093/hmg/dds184. Epub 2012 May 15.

41.

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium.

Neurology. 2012 Feb 21;78(8):557-62. doi: 10.1212/WNL.0b013e318247ff54. Epub 2012 Jan 25.

PMID:
22282645
42.

Epilepsy gene LGI1 regulates postnatal developmental remodeling of retinogeniculate synapses.

Zhou YD, Zhang D, Ozkaynak E, Wang X, Kasper EM, Leguern E, Baulac S, Anderson MP.

J Neurosci. 2012 Jan 18;32(3):903-10. doi: 10.1523/JNEUROSCI.5191-11.2012.

43.

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.

EPICURE Consortium, Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T.

Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13.

44.

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