Results 61 to 70 of about 1,141,201 (199)

Motor development in children with Dravet syndrome

, 2019
: Aim The aim of this study is to describe the course of motor development in children with Dravet syndrome. Method Forty-three participants (21 males, 22 females; mean age at last assessment 53.89mo +/- 42.50mo) met the inclusion criteria of having a ...
Hallemans, Ann, Karen Verheyen, Ceulemans, Berten, Verheyen, Karen, Patricia Van De Walle, Ann Hallemans, An‐Sofie Schoonjans, Schoonjans, An-Sofie, Van de Walle, Patricia, Evi Verbecque, Berten Ceulemans, Verbecque, Evi   +11 more
core   +2 more sources

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. [PDF]

PLoS Genetics, 2009
A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7.
Nanda A Singh, Chris Pappas, E Jill Dahle, Lieve R F Claes, Timothy H Pruess, Peter De Jonghe, Joel Thompson, Missy Dixon, Christina Gurnett, Andy Peiffer, H Steve White, Francis Filloux, Mark F Leppert   +12 more
doaj   +1 more source

Antiseizure potency and neurotoxicity of the enantiomers of fenfluramine and norfenfluramine in rats and correlations with their concentrations in plasma and brain

Epilepsia, EarlyView.
Abstract Objective Based on the evidence that fenfluramine‐induced anorexia, weight loss, and cardiovascular toxicity are primarily mediated by the d‐enantiomers of fenfluramine and its metabolite norfenfluramine, we investigated pharmacokinetic/pharmacodynamic correlations for the active enantiomers of fenfluramine and norfenfluramine in the rat ...
Yara Sheeni, Dinorah Barasch, Tawfeeq Shekh‐Ahmad, Emilio Perucca, Meir Bialer   +4 more
wiley   +1 more source

CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

Neurobiology of Disease, 2013
Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Nav1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome.
Iori Ohmori, Mamoru Ouchida, Katsuhiro Kobayashi, Yoshimi Jitsumori, Akiko Mori, Hiroyuki Michiue, Teiichi Nishiki, Yoko Ohtsuka, Hideki Matsui   +8 more
doaj   +1 more source

Outcomes of out‐of‐hospital treatment of impending tonic–clonic status epilepticus with diazepam nasal spray: A retrospective combined cohort analysis

Epilepsia, EarlyView.
Abstract Objective We assessed the timing, dosing, and effectiveness of diazepam nasal spray in a large dataset of seizures treated in the out‐of‐hospital setting, using as reference the International League Against Epilepsy criteria for tonic–clonic status epilepticus (SE) and its treatment.
John M. Stern, Leock Y. Ngo, Eric B. Segal, Danielle A. Becker, Randa G. Jarrar, Tracy A. Glauser, Jurriaan M. Peters, Emilio Perucca, Evelyn K. Shih, Enrique Carrazana, Adrian L. Rabinowicz   +10 more
wiley   +1 more source

Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome

Neurobiology of Disease, 2015
Dominant loss-of-function mutations in voltage-gated sodium channel NaV1.1 cause Dravet Syndrome, an intractable childhood-onset epilepsy. NaV1.1+/− Dravet Syndrome mice in C57BL/6 genetic background exhibit severe seizures, cognitive and social ...
Moran Rubinstein, Ruth E. Westenbroek, Frank H. Yu, Christina J. Jones, Todd Scheuer, William A. Catterall   +5 more
doaj   +1 more source

Monthly or menstrual? A scoping review of catamenial epilepsy and non‐menstrual seizure rhythms

Epilepsia, EarlyView.
Abstract Objective Despite the reported high prevalence of catamenial epilepsy (CE), the condition remains poorly defined, with lack of consensus on what entails a menstrual‐related seizure exacerbation. Emerging evidence of multiday cycles of seizure activity, including about‐monthly cycles, present in both men and women, further confound the ...
Victoria Wong, Ewan S. Nurse, Ashley Reynolds, Mark J. Cook, Philippa J. Karoly   +4 more
wiley   +1 more source

Dravet syndrome

, 2010
Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically
Rasmussen, Niels Henrik, Ousager, Lilian Bomme; id_orcid, Hansen, Lars Kjaersgård   +2 more
core   +1 more source

Dravet syndrome

Italian Journal of Pediatrics, 2009
"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.
Incorpora Gemma
doaj   +1 more source

Temperature homeostasis disruption and hypothalamic alterations in experimental drug‐resistant epilepsy

Epilepsia, EarlyView.
Abstract Objective Elevated body temperature may increase seizure risk, yet the relationship between thermoregulation and seizures, as well as the underlying mechanisms, remains poorly understood. We investigated whether thermoregulatory control is altered in experimental temporal lobe epilepsy (TLE), as such impairment could reduce the ability of ...
Rossella Di Sapia, Akash Bera, Omar Mamad, James D. Mills, Benjamin Villasana‐Salazar, Giada Lavigna, Edoardo Micotti, Manuela Conticello, Asmin Alam, Roberto Chiesa, Francesca Pagani, Roberta Frapolli, Angelo M. Lavecchia, Christodoulos Xinaris, Eleonora Aronica, Andre Altmann, Teresa Ravizza, Sanjay M. Sisodiya, David C. Henshall, Annamaria Vezzani   +19 more
wiley   +1 more source