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Page 1
Deciphering the natural history of SCA7 in children.
Bah MG, Rodriguez D, Cazeneuve C, Mochel F, Devos D, Suppiej A, Roubertie A, Meunier I, Gitiaux C, Curie A, Klapczynski F, Allani-Essid N, Carneiro M, Van Minkelen R, Kievit A, Fluss J, Leheup B, Ratbi L, Héron D, Gras D, Do Cao J, Pichard S, Strubi-Villaume I, Audo I, Lesca G, Charles P, Dubois F, Comet-Didierjean P, Capri Y, Barondiot C, Barathon M, Ewenczyk C, Durr A, Mignot C. Bah MG, et al. Among authors: lesca g. Eur J Neurol. 2020 Nov;27(11):2267-2276. doi: 10.1111/ene.14405. Epub 2020 Jul 23. Eur J Neurol. 2020. PMID: 32558018
FXTAS: new insights and the need for revised diagnostic criteria.
Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M. Apartis E, et al. Among authors: lesca g. Neurology. 2012 Oct 30;79(18):1898-907. doi: 10.1212/WNL.0b013e318271f7ff. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077007
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P. Cloarec R, et al. Among authors: lesca g. Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077017 Free PMC article.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L. Milh M, et al. Among authors: lesca g. Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80. Orphanet J Rare Dis. 2013. PMID: 23692823 Free PMC article.
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: lesca g. Neurology. 2014 Jun 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9. Neurology. 2014. PMID: 24814846
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: lesca g. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G. Dimassi S, et al. Among authors: lesca g. Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30. Clin Genet. 2016. PMID: 26138355
319 results