Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sarah Delima"'
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Autor:
Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle
Publikováno v:
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d78f9a1dfb34105b40b0c635c1e599
https://doi.org/10.1093/brain/awac210
https://doi.org/10.1093/brain/awac210
Autor:
Gloria Fritsch, Shana Riner, Andrew Jea, Jacob Archer, Sarah Delima, Alan P. Yaacoub, Francisco Angulo-Parker, Ann Coon, Sarah K Johnson, Jeffrey S. Raskin
Publikováno v:
Operative Neurosurgery. 17:E103-E104
Severe lower limb spasticity can hinder motor tasks and negatively impacts the quality of life in patients with cerebral palsy. Selective dorsal rhizotomy is a well-established neurosurgical intervention aimed at reducing muscle spasticity in patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05302ad85cc5d0316fe6376d3db3f0b8
https://doi.org/10.1093/ons/opy392
https://doi.org/10.1093/ons/opy392
Publikováno v:
Journal of Child Neurology. 23:1054-1057
It is rare to develop simultaneous toxicities while on anticonvulsants. This article presents a 3½-year-old child on valproic acid, lamotrigine, and phenytoin who developed simultaneous hepatotoxicity and bone marrow toxicity during a parainfluenza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36e56b58593af5b7633871fa8090b6e9
https://doi.org/10.1177/0883073808314156
https://doi.org/10.1177/0883073808314156