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

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

28 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bär S, Scholly J, Schaefer E, Nava C, Wirth T, Nasser H, de Salins M, de Saint Martin A, Warde MTA, Kahane P, Hirsch E, Anheim M, Friant S, Chelly J, Mignot C, Rudolf G. Doummar D, et al. Eur J Hum Genet. 2020 Oct;28(10):1403-1413. doi: 10.1038/s41431-020-0641-9. Epub 2020 May 28. Eur J Hum Genet. 2020. PMID: 32467598 Free PMC article.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A. Garret P, et al. Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. Clin Genet. 2020. PMID: 31997314
Focal epilepsy due to de novo SCN1A mutation.
Laur D, Dozières-Puyravel B, Iléa A, Nava C, Delanoë C, Nasser H, Le Guern E, Auvin S. Laur D, et al. Among authors: dozieres puyravel b. Epileptic Disord. 2021 Jun 1;23(3):459-465. doi: 10.1684/epd.2021.1285. Epileptic Disord. 2021. PMID: 34106054
Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy.
Legros L, Adle-Biassette H, Dozières-Puyravel B, Khung S, Elmaleh-Bergès M, Lesca G, Delanoë C, Biran V, Auvin S. Legros L, et al. Among authors: dozieres puyravel b. Seizure. 2022 Jul;99:36-39. doi: 10.1016/j.seizure.2022.05.008. Epub 2022 May 10. Seizure. 2022. PMID: 35584591 Free article.
[Pediatric epilepsies].
Auvin S, Dozières-Puyravel B. Auvin S, et al. Rev Prat. 2020 Apr;70(4):421-426. Rev Prat. 2020. PMID: 32877101 Review. French.
28 results