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Page 1
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: valence s. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N. Vegas N, et al. Among authors: valence s. Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533527 Free PMC article.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Among authors: valence s. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: valence s. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J. Torti E, et al. Among authors: valence s. Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11. Genet Med. 2019. PMID: 30739909 Free PMC article.
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F, Titheradge H, Cooper N, Elmslie F, Lees MM, Juusola J, Pisani L, McKenna C, Mignot C, Valence S, Keren B, Lachlan K; DDD Study; Balasubramanian M. Kanani F, et al. Among authors: valence s. Am J Med Genet A. 2020 Apr;182(4):713-720. doi: 10.1002/ajmg.a.61483. Epub 2020 Jan 11. Am J Med Genet A. 2020. PMID: 31926053
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Aubert Mucca M, Patat O, Whalen S, Arnaud L, Barcia G, Buratti J, Cogné B, Doummar D, Karsenty C, Kenis S, Leguern E, Lesca G, Nava C, Nizon M, Piton A, Valence S, Villard L, Weckhuysen S, Keren B, Mignot C. Aubert Mucca M, et al. Among authors: valence s. J Med Genet. 2022 May;59(5):505-510. doi: 10.1136/jmedgenet-2020-107511. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811134
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Heide S, Argilli E, Valence S, Boutaud L, Roux N, Mignot C, Nava C, Keren B, Giraudat K, Faudet A, Gerasimenko A, Garel C, Blondiaux E, Rastetter A, Grevent D, Le C, Mackenzie L, Richards L, Attié-Bitach T, Depienne C, Sherr E, Héron D. Heide S, et al. Among authors: valence s. J Med Genet. 2024 Feb 21;61(3):244-249. doi: 10.1136/jmg-2023-109293. J Med Genet. 2024. PMID: 37857482
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. Among authors: valence s. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
57 results