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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS. Mohammadi NA, et al. Among authors: auvin s. EBioMedicine. 2024 Aug;106:105236. doi: 10.1016/j.ebiom.2024.105236. Epub 2024 Jul 11. EBioMedicine. 2024. PMID: 38996765 Free PMC article.
Corrigendum to "Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy" [Eur. J. Paediatr. Neurol. 47 (2023) 25-34].
Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P. Specchio N, et al. Among authors: auvin s. Eur J Paediatr Neurol. 2024 Jul;51:149-150. doi: 10.1016/j.ejpn.2023.12.004. Epub 2024 May 18. Eur J Paediatr Neurol. 2024. PMID: 38762440 No abstract available.
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators. de Vries PJ, et al. Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8. Orphanet J Rare Dis. 2018. PMID: 30201051 Free PMC article.
WONOEP appraisal: Genetic insights into early onset epilepsies.
Quatraccioni A, Cases-Cunillera S, Balagura G, Coleman M, Rossini L, Mills JD, Casillas-Espinosa PM, Moshé SL, Sankar R, Baulac S, Noebels JL, Auvin S, O'Brien TJ, Henshall DC, Akman Ö, Galanopoulou AS. Quatraccioni A, et al. Among authors: auvin s. Epilepsia. 2024 Sep 20. doi: 10.1111/epi.18124. Online ahead of print. Epilepsia. 2024. PMID: 39302576 Review.
Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Pierri NB, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: auvin s. HGG Adv. 2024 Aug 28:100349. doi: 10.1016/j.xhgg.2024.100349. Online ahead of print. HGG Adv. 2024. PMID: 39210597 Free article.
Chloride deregulation and GABA depolarization in MTOR related malformations of cortical development.
Bakouh N, Castaño-Martín R, Metais A, Dan EL, Balducci E, Chhuon C, Lepicka J, Barcia G, Losito E, Lourdel S, Planelles G, Muresan RC, Moca VV, Kaminska A, Bourgeois M, Chemaly N, Rguez Y, Auvin S, Huberfeld G, Varlet P, Asnafi V, Guerrera IC, Kabashi E, Nabbout R, Ciura S, Blauwblomme T. Bakouh N, et al. Among authors: auvin s. Brain. 2024 Aug 6:awae262. doi: 10.1093/brain/awae262. Online ahead of print. Brain. 2024. PMID: 39106285
297 results