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A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.
Straka B, Koblížek M, Splítková B, Valkovičová R, Krsková L, Kalinová M, Vlčková M, Zámečník J, Laššuthová P, Sedláčková L, Staněk D, Maulisová A, Tichý M, Kynčl M, Kršek P. Straka B, et al. Among authors: sedlackova l. Epilepsia Open. 2024 Feb;9(1):424-431. doi: 10.1002/epi4.12863. Epub 2023 Dec 14. Epilepsia Open. 2024. PMID: 37943122 Free PMC article.
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.
Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J. Laššuthová P, et al. Among authors: sedlackova l. Clin Genet. 2018 Nov;94(5):467-472. doi: 10.1111/cge.13417. Epub 2018 Aug 14. Clin Genet. 2018. PMID: 30028002 Review.
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.
Šedivá M, Laššuthová P, Zámečník J, Sedláčková L, Seeman P, Haberlová J. Šedivá M, et al. Among authors: sedlackova l. Eur J Med Genet. 2020 Jan;63(1):103619. doi: 10.1016/j.ejmg.2019.01.009. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690205
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases.
Staněk D, Sedláčková L, Seeman P, Šafka Brožková D, Laššuthová P. Staněk D, et al. Among authors: sedlackova l. Genet Test Mol Biomarkers. 2020 May;24(5):264-273. doi: 10.1089/gtmb.2019.0232. Epub 2020 Apr 7. Genet Test Mol Biomarkers. 2020. PMID: 32255705
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.
77 results