Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2022 Nov 28;23(1):20-22.
doi: 10.1177/15357597221135963. eCollection 2023 Jan-Feb.

Responding to the Need of the Hour: Natural History Studies

Affiliations
Comment

Responding to the Need of the Hour: Natural History Studies

Charuta Joshi. Epilepsy Curr. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Comment on

  • Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
    Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.

References

    1. Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1349–1397. - PubMed
    1. Myers KA, Scheffer IE. Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies. Annu Rev Pharmacol Toxicol. 2022;62:641–662. - PubMed
    1. Balagura G, Xian J, Riva A, et al. Epilepsy course and developmental trajectories in STXBP1-DEE. Neurol Genet. 2022;8(3):e676. - PMC - PubMed
    1. Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954–962. - PubMed
    1. Brock DC, Demarest S, Benke TA. Clinical trial design for disease-modifying therapies for genetic epilepsies. Neurotherapeutics. 2021;18(3):1445–1457. - PMC - PubMed

LinkOut - more resources