Results 41 to 50 of about 1,141,201 (199)

Navigating Dravet syndrome in Spain: A cross‐sectional study of diagnosis, management, and care coordination

Epilepsia Open
Objectives Dravet syndrome (DS) is a rare form of refractory epilepsy that begins in the first year of life. Approximately 85% of patients have a mutation in the SCN1A gene, which encodes a voltage‐gated sodium channel.
Sandra Solaz, Elena Cardenal‐Muñoz, Alicia Muñoz, Simona Giorgi, Federico V. Pallardó, Carlos Romá‐Mateo, José Ángel Aibar   +6 more
doaj   +1 more source

Cognitive decline in Dravet syndrome: is there a cerebellar role?

, 2013
The aim of the study was to perform a detailed assessment of cognitive abilities and behaviour in a series of epileptic patients with Dravet syndrome (DS) in order to establish a possible cerebellar-like ...
Mercuri, Eugenio Maria, Chieffo, D, Battaglia, Domenica Immacolata   +2 more
core   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

Epileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori, Hiroshi Terashima, Yu kakimoto, Mitsuhiro Kato, Shumpei Uchino   +4 more
wiley   +1 more source

Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study

Research Involvement and Engagement
Background EUPATI Spain and EURORDIS have implemented a patient engagement model in health product research and development (R&D): international, independent Community Advisory Boards (CABs), where patients collaborate with health product companies in ...
Rob Camp, Simona Borroni, Hilde DeKeyser, Mark Hees, Aleksandra Leijenhorst, Mohsharif Nasrulloeva, David Trigos, François Houÿez   +7 more
doaj   +1 more source

Late diagnoses of Dravet syndrome: How many individuals are we missing?

Epilepsia Open, 2021
We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow‐up at a tertiary epilepsy center.
Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, Meneka K. Sidhu, Helena Martins Custodio, Genomics England Research Consortium, Wendy D. Jones, Simona Balestrini, Sanjay M. Sisodiya   +8 more
doaj   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Conference poster Dravet Syndrome Disease Map

, 2023
Poster shown at the Disease Maps Community meeting in Maastricht 3.4.2023. Dravet syndrome disease map is an ongoing project on creating an interactive disease map for the rare epilepsy disorder Dravet syndrome.
Friederike Ehrhart (1376496)
core   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Sodium Channel Blocker Tolerance as a Metric for Disease Modification in Dravet Syndrome [PDF]

Ann Child Neurol Soc
Annals of the Child Neurology Society, Volume 4, Issue 3, Page 175-176, September 2026.
Yuji K, Yuji W.
europepmc   +2 more sources