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PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Cossu A, Santos JL, Galati G, Nikanorova M, Costa P, Mang Y, Silahtaroglu A, Rubboli G, Tommerup N, Dalla Bernardina B, Møller RS, Cantalupo G, Gardella E. Cossu A, et al. Among authors: santos jl. Neurol Sci. 2023 Jun;44(6):2173-2176. doi: 10.1007/s10072-023-06735-7. Epub 2023 Mar 13. Neurol Sci. 2023. PMID: 36913149
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Klabunde-Cherwon A, Kluger G, Muhle H, Pendziwiat M, Møller RS, Platzer K, Santos JL, Schröter J, Hoffmann GF, Kölker S, Syrbe S. Döring JH, et al. Among authors: santos jl. Neurol Genet. 2022 Sep 28;8(5):e200020. doi: 10.1212/NXG.0000000000200020. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36187725 Free PMC article.
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Kluger G, Muhle H, Møller RS, Platzer K, Santos JL, Bache I, Bertsche A, Bonfert M, Borggräfe I, Broser PJ, Datta AN, Hammer TB, Hartmann H, Hasse-Wittmer A, Henneke M, Kühne H, Lemke JR, Maier O, Matzker E, Merkenschlager A, Opp J, Patzer S, Rostasy K, Stark B, Strzelczyk A, von Stülpnagel C, Weber Y, Wolff M, Zirn B, Hoffmann GF, Kölker S, Syrbe S. Döring JH, et al. Among authors: santos jl. Biomedicines. 2020 Oct 28;8(11):456. doi: 10.3390/biomedicines8110456. Biomedicines. 2020. PMID: 33126500 Free PMC article.
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation.
Vad OB, Yan Y, Denti F, Ahlberg G, Refsgaard L, Bomholtz SH, Santos JL, Rasmussen S, Haunsø S, Svendsen JH, Christophersen IE, Schmitt N, Olesen MS, Bentzen BH. Vad OB, et al. Among authors: santos jl. Front Genet. 2022 Jan 28;13:806429. doi: 10.3389/fgene.2022.806429. eCollection 2022. Front Genet. 2022. PMID: 35154276 Free PMC article.
Corrigendum to "Microplastics in Santos São Vicente estuarine - Hotspot in sediments caused by low energy hydrodynamic events in strongly populated areas" [Mar. Pollut. Bull. (2024) 117286].
Parra DF, Gimiliani GT, Dos Santos JL, Wetter NU, Schepis WR, Bereczki A, da Cunha Pascoal DR, Cotrim MEB. Parra DF, et al. Among authors: dos santos jl. Mar Pollut Bull. 2024 Dec 14:117449. doi: 10.1016/j.marpolbul.2024.117449. Online ahead of print. Mar Pollut Bull. 2024. PMID: 39674796 No abstract available.
1,217 results