Results 11 to 20 of about 1,141,201 (199)

Optimizing polytherapy management for Dravet syndrome in the United States: A National Expert Consensus. [PDF]

Epilepsia Open
ABSTRACT Objectives Dravet syndrome (DS) is a severe, drug‐resistant developmental and epileptic encephalopathy (DEE) that requires polytherapy for adequate seizure control. The need to combine multiple antiseizure medications (ASMs), together with variability in seizure types, safety considerations, and evolving patient needs, makes treatment ...
Wirrell E, Sullivan J.
europepmc   +2 more sources

Transcranial static magnetic stimulation reduces seizures in a mouse model of Dravet syndrome [PDF]

, 2023
[Abstract] Dravet syndrome is a rare form of severe genetic epilepsy characterized by recurrent and long-lasting seizures. It appears around the first year of life, with a quick evolution toward an increase in the frequency of the seizures, accompanied ...
Suárez Porto, Eduardo, Paz, Concepción, Cudeiro, Javier, Pardo-Vázquez, José Luís, Rivadulla, Casto, Álvarez-Dolado, Manuel, Aguilar Fernández, Jaime, Aguilar, J., Pardo-Vázquez, José L., Paz, C., Labra, Carmen de, Suárez, Eduardo   +11 more
core   +1 more source

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics. [PDF]

Epilepsia Open
This graphical abstract provides an overview of the content from this post hoc analysis evaluating the efficacy and safety of fenfluramine in patients with Dravet syndrome stratified by age, number of previously attempted antiseizure medications, and SCN1A pathogenic variant status using data pooled from the three pivotal randomized controlled trials ...
Nabbout R, Sullivan J, Auvin S, Cross JH, Devinsky O, Gil-Nagel A, Guerrini R, Knupp KG, Perry MS, Sánchez-Carpintero R, Schoonjans AS, Scheffer IE, Specchio N, Strzelczyk A, Wheless J, Wirrell EC, Morita D, Healy P, Langlois M, Lothe A, Lagae L.   +20 more
europepmc   +2 more sources

From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the DS'coverED study. [PDF]

Epilepsia Open
Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Christodoulou L, Ballarà Petitbò M, Aguilera Albesa S, Borroni S, Hugon P, Kumar R, Messana T, Meyer P, Villéga F, Klotz KA.   +9 more
europepmc   +2 more sources

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report. [PDF]

Epilepsia Open
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Surdi P, Trivisano M, Mercier M, Pietrafusa N, De Dominicis A, Calabrese C, Cappelletti S, Specchio N.   +7 more
europepmc   +2 more sources

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

Stem Cell Research, 2022
Dravet syndrome is an early onset devastating epilepsy syndrome usually caused by heterozygous mutations in SCN1A. We generated a human iPSC line (UUIGPi015-A) from dermal fibroblasts of a patient with Dravet syndrome carrying a deletion on chromosome 2 ...
Jens Schuster, Claudia de Guidi, Rekha Tripathi, Joakim Klar, Niklas Dahl   +4 more
doaj   +1 more source

Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathology [PDF]

, 2011
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known.
Liu, J.Y.W., Catarino, C.B., Scheffer, I.E., Davis, M.B., McMahon, J.M., Sisodiya, S.M., Liagkouras, I., Bellows, S.T., Woodward, C., Koepp, M.J., Yendle, S.C., Zuberi, S.M., Gibbons, V.S., Labrum, R.W., Thom, M., Martinian, L., Appleton, R.E., Jacques, T.S., Cross, J.H., Ellis, R., Smith, S.J.   +20 more
core   +1 more source

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. [PDF]

PLoS ONE, 2013
OBJECTIVE:Dravet syndrome is a severe form of intractable pediatric epilepsy with a high incidence of SUDEP: Sudden Unexpected Death in epilepsy. Cardiac arrhythmias are a proposed cause for some cases of SUDEP, yet the susceptibility and potential ...
David S Auerbach, Julie Jones, Brittany C Clawson, James Offord, Guy M Lenk, Ikuo Ogiwara, Kazuhiro Yamakawa, Miriam H Meisler, Jack M Parent, Lori L Isom   +9 more
doaj   +1 more source

Dravet syndrome in a 13-year-old child [PDF]

Journal of Clinical and Scientific Research, 2015
Dravet syndrome is a rare genetic epilepsy syndrome of infancy and childhood. It is characterized by occurrence of protracted febrile seizures in a normal infant followed by development of multiple seizure types and psychomotor retardation.
Vengamma B, Varadaraja J, Naveen T
doaj   +1 more source

Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome

Frontiers in Cellular Neuroscience, 2023
Dravet syndrome (Dravet) is a severe congenital developmental genetic epilepsy caused by de novo mutations in the SCN1A gene. Nonsense mutations are found in ∼20% of the patients, and the R613X mutation was identified in multiple patients.
Anat Mavashov, Anat Mavashov, Marina Brusel, Marina Brusel, Jiaxing Liu, Victoria Woytowicz, Haneui Bae, Ying-Hsin Chen, Vardhan S. Dani, Elena Cardenal-Muñoz, Vittoria Spinosa, José Ángel Aibar, Moran Rubinstein, Moran Rubinstein, Moran Rubinstein   +14 more
doaj   +1 more source