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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 2
1990 1
1991 3
1993 1
1994 1
1996 1
1997 3
1998 2
1999 3
2000 3
2001 1
2002 2
2005 1
2006 1
2007 3
2008 6
2009 5
2010 4
2011 8
2012 2
2013 3
2014 5
2015 2
2016 4
2017 4
2018 1
2019 2
2020 3
2021 2
2022 3
2023 3
2024 1

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75 results

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Page 1
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: berquin p. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: berquin p. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Retrospective chart review study of use of cannabidiol (CBD) independent of concomitant clobazam use in patients with Lennox-Gastaut syndrome or Dravet syndrome.
Nabbout R, Arzimanoglou A, Auvin S, Berquin P, Desurkar A, Fuller D, Nortvedt C, Pulitano P, Rosati A, Soto V, Villanueva V, Cross JH. Nabbout R, et al. Among authors: berquin p. Seizure. 2023 Aug;110:78-85. doi: 10.1016/j.seizure.2023.05.003. Epub 2023 May 5. Seizure. 2023. PMID: 37331197 Free article.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: berquin p. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Le Guyader G, Isnard H, Rolland A, Doummar D, Fluss J, Afenjar A, Berquin P, De Saint Martin A, Dupont S, Goldenberg A, Lederer D, Lesca G, Maurey H, Meyer P, Mignot C, Nica A, Odent S, Poisson A, Scalais E, Sekhara T, Vrielynck P, Barcia G, Nabbout R. Bar C, et al. Among authors: berquin p. Epilepsy Behav. 2022 Jan;126:108471. doi: 10.1016/j.yebeh.2021.108471. Epub 2021 Dec 13. Epilepsy Behav. 2022. PMID: 34915430 Free article.
Phosphatidylserine enriched with polyunsaturated n-3 fatty acid supplementation for attention-deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo-controlled trial.
Rheims S, Herbillon V, Gaillard S, Mercier C, Villeuve N, Villéga F, Cances C, Castelnau P, Napuri S, de Saint-Martin A, Auvin S, Nguyen The Tich S, Berquin P, de Bellecize J, Milh M, Roy P, Arzimanoglou A, Bodennec J, Bezin L, Kassai B; investigators of the AGPI study group. Rheims S, et al. Among authors: berquin p. Epilepsia Open. 2024 Apr;9(2):582-591. doi: 10.1002/epi4.12892. Epub 2024 Jan 25. Epilepsia Open. 2024. PMID: 38173190 Free PMC article. Clinical Trial.
75 results