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Page 1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: korenke gc. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Syrbe S, et al. Among authors: korenke gc. Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. Brain. 2017. PMID: 29050398 Free PMC article.
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
Müller A, Helbig I, Jansen C, Bast T, Guerrini R, Jähn J, Muhle H, Auvin S, Korenke GC, Philip S, Keimer R, Striano P, Wolf NI, Püst B, Thiels Ch, Fogarasi A, Waltz S, Kurlemann G, Kovacevic-Preradovic T, Ceulemans B, Schmitt B, Philippi H, Tarquinio D, Buerki S, von Stülpnagel C, Kluger G. Müller A, et al. Among authors: korenke gc. Eur J Paediatr Neurol. 2016 Jan;20(1):147-51. doi: 10.1016/j.ejpn.2015.09.001. Epub 2015 Sep 10. Eur J Paediatr Neurol. 2016. PMID: 26387070
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Döring JH, Schröter J, Jüngling J, Biskup S, Klotz KA, Bast T, Dietel T, Korenke GC, Christoph S, Brennenstuhl H, Rubboli G, Møller RS, Lesca G, Chaix Y, Kölker S, Hoffmann GF, Lemke JR, Syrbe S. Döring JH, et al. Among authors: korenke gc. Int J Mol Sci. 2021 Mar 10;22(6):2824. doi: 10.3390/ijms22062824. Int J Mol Sci. 2021. PMID: 33802230 Free PMC article.
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF. Boissé Lomax L, et al. Among authors: korenke gc. Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28. Brain. 2013. PMID: 23449775
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. Among authors: korenke gc. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 Free PMC article.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Héron D, Kluger G, Depienne C. Mignot C, et al. Among authors: korenke gc. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989088
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K. Kortüm F, et al. Among authors: korenke gc. Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20. Eur J Hum Genet. 2018. PMID: 29463858 Free PMC article.
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