Accès ouvert
2025
article
OpenAlex
Robert Flamini, András Fogarasi, Hirowo Omatsu, Mathieu Milh et autres
OBJECTIVE: Study 311 (NCT02849626) Extension A assessed long-term outcomes of adjunctive perampanel treatment in children (ages 4 to <12 years) with uncontrolled focal-onset seizures (FOS), with/without focal to bilateral tonic-clonic seizures (FBTCS), or generalized tonic-clonic seizures (GTCS). METHODS: Patients completing the 23-week …
us, hu, fr, gb, jp
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Accès ouvert
2024
article
OpenAlex
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le et autres
Background: RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents’ disease burden. We sought to investigate quality of …
ca, it, us, br
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2024
article
OpenAlex
Yong Park, Karthik Rajasekaran, Teresa Greco, Farhad Sahebkar-Moghaddam et autres
To report the effect of CBD in EAP patients with focal-onset seizures, including focal aware seizures (FAS), focal impaired awareness seizures (FIAS), and focal to bilateral tonic-clonic seizures (FBTCS).
us
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Accès ouvert
2024
article
OpenAlex
Joseph Sullivan, Elaine Wirrell, Kelly G. Knupp, Dillon Z. Chen et autres
OBJECTIVE: The BUTTERFLY observational study aims to elucidate the natural trajectory of Dravet syndrome (DS) and associated comorbidities in order to establish a baseline for clinical therapies. We present the 12-month interim analysis of the study. MATERIALS AND METHODS: Patients with a …
us, cu, gb
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Accès ouvert
2023
article
OpenAlex
Allan Bayat, Stefano Iavarone, Francesco Miceli, Anne Vagner Jakobsen et autres
While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy. In the present work, the clinical features of three patients carrying a de novo KCNQ2 Y141N …
dk, it, pl, us, be
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Accès ouvert
2023
article
OpenAlex
Robert Flamini, Anne M. Comi, E. Martina Bebin, Michael Chez et autres
The cannabidiol (CBD) Expanded Access Program (EAP), initiated in 2014, provided CBD (Epidiolex) to patients with treatment-resistant epilepsy (TRE). In the final pooled analysis of 892 patients treated through January 2019 (median exposure = 694 days), CBD treatment was associated with a …
us
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Accès ouvert
2023
preprint
OpenAlex
Allan Bayat, Stefano Iavarone, Francesco Miceli, Anne Vagner Jakobsen et autres
Abstract While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy. We functionally characterized two novel presumed GoF KCNQ2 variants (Y141N and G239S), and described the …
dk, it, pl, us, be
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Accès ouvert
2022
article
OpenAlex
Joseph Sullivan, Elaine Wirrell, Kelly G. Knupp, Dillon Z. Chen et autres
PURPOSE: The purpose of this study is to evaluate adaptive functioning and neurodevelopment study assessments in a prospective study of patients with Dravet syndrome (DS). We present 3-month interim adaptive functioning and neurodevelopment data from the prospective, observational BUTTERFLY study in patients …
us
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2022
article
OpenAlex
Robert Flamini, Anna Patten, Manoj Malhotra, Leock Y. Ngo
Background Long-term (1-year) seizure-freedom rates with adjunctive perampanel were assessed in paediatric patients aged 4–<12 years with focal-onset seizures (FOS) (with/without focal to bilateral tonic-clonic seizures [FBTCS]) or generalised tonic-clonic seizures (GTCS) during Study 311 ( NCT02849626 ). Methods Seizure-freedom rates (FOS, …
us, gb
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Accès ouvert
2022
article
OpenAlex
Derek Neupert, Puya Abbassi, Lyndsey Prange, Robert Flamini et autres
Mutations in the ATP1A3 gene (which encodes the main α subunit in neuronal Na+/K+-ATPases) cause various neurological syndromes including alternating hemiplegia of childhood. This rare disorder is characterized by paroxysmal episodes of hemiplegia, dystonia, oculomotor abnormalities, and occasionally developmental regression. Approximately 50% …
us
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2021
article
OpenAlex
Paul D. Lyons, Anne M. Comi, E. Martina Bebin, Daniel Checketts et autres
Evaluate the effect of CBD on convulsive (clonic, tonic, tonic-clonic, atonic, focal to bilateral tonic-clonic) and nonconvulsive (focal, absence, myoclonic, myoclonic-absence, spasms) seizures and safety in patients with TREs in the EAP.
us, gb, au
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2021
article
OpenAlex
Robert Flamini, Anna Patten, Manoj Malhotra, Leock Y. Ngo
Assess if seizure-freedom rates with adjunctive perampanel during the 311 Core Study (NCT02849626) are maintained long-term in pediatric patients with POS (with/without secondarily generalized seizures [SGS]) or PGTCS.
us, gb
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