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Page 1
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Ann Neurol. 2024 Feb;95(2):365-376. doi: 10.1002/ana.26826. Epub 2023 Dec 28.
Ann Neurol. 2024.
PMID: 37964487
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.
Krey I, von Spiczak S, Johannesen KM, Hikel C, Kurlemann G, Muhle H, Beysen D, Dietel T, Møller RS, Lemke JR, Syrbe S.
Krey I, et al. Among authors: dietel t.
Neurotherapeutics. 2022 Jan;19(1):334-341. doi: 10.1007/s13311-021-01173-9. Epub 2022 Jan 7.
Neurotherapeutics. 2022.
PMID: 34997442
Free PMC article.
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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: dietel t.
Int J Mol Sci. 2021 Mar 10;22(6):2824. doi: 10.3390/ijms22062824.
Int J Mol Sci. 2021.
PMID: 33802230
Free PMC article.
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Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.
Schorling DC, Dietel T, Evers C, Hinderhofer K, Korinthenberg R, Ezzo D, Bönnemann CG, Kirschner J.
Schorling DC, et al. Among authors: dietel t.
Neuropediatrics. 2017 Oct;48(5):371-377. doi: 10.1055/s-0037-1603977. Epub 2017 Jun 19.
Neuropediatrics. 2017.
PMID: 28628939
Review.
No abstract available.
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