User profiles for "author:Béatrice Desnous"

Béatrice Desnous

MD, PhD Aix Marseille University
Verified email at ap-hm.fr
Cited by 484

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and …

P Maillard, S Baer, É Schaefer, B Desnous… - …, 2022 - Wiley Online Library
Objective γ‐Aminobutyric acid (GABA) A‐receptor subunit variants have recently been
associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with …

[HTML][HTML] Challenges and new perspectives of developmental cognitive EEG studies

E Hervé, G Mento, B Desnous, C François - NeuroImage, 2022 - Elsevier
Despite shared procedures with adults, electroencephalography (EEG) in early
development presents many specificities that need to be considered for good quality data …

Diagnosis delay in West syndrome: misdiagnosis and consequences

S Auvin, AL Hartman, B Desnous, AC Moreau… - European journal of …, 2012 - Springer
West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the
first year of life. The clinical symptoms of infantile spasms are very different than any other …

[HTML][HTML] Slow titration of cannabidiol add-on in drug-resistant epilepsies can improve safety with maintained efficacy in an open-label study

G D'Onofrio, M Kuchenbuch, HL Camus… - Frontiers in …, 2020 - frontiersin.org
Objective: To assess adverse events (AEs) and efficacy of add-on cannabidiol (CBD) with a
slower titration protocol in pediatric clinical practice. Methods: We conducted a prospective …

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

S Guey, L Grangeon, F Brunelle, F Bergametti… - Journal of Medical …, 2017 - jmg.bmj.com
Background Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the
terminal part of the internal carotid arteries and the development of abnormal collateral deep …

Autosomal dominant MPAN: mosaicism expands the clinical spectrum to atypical late‐onset phenotypes

C Angelini, CM Durand, P Fergelot… - Movement …, 2023 - Wiley Online Library
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is
caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades …

[HTML][HTML] Impacts of an interdisciplinary developmental follow-up program on neurodevelopment in congenital heart disease: the CINC study

S Fourdain, L Caron-Desrochers, MN Simard… - Frontiers in …, 2020 - frontiersin.org
Objectives: This study investigates the impact of an early systematic interdisciplinary
developmental follow-up and individualized intervention program on the neurodevelopment …

Vertigo and dizziness in children: When to consider a neurological cause

T Beretti, B Desnous - Archives de Pédiatrie, 2023 - Elsevier
Vertigo is common in childhood and adolescence. Although children and adults share
common causes of vertigo, epidemiology changes with aging. For instance, ischemic stroke …

[HTML][HTML] Intellectual outcome from 1 to 5 years after epilepsy surgery in 81 children and adolescents: a longitudinal study

V Laguitton, B Desnous, A Lépine, A McGonigal… - Seizure, 2021 - Elsevier
Objective This longitudinal study aimed to measure the time course of intellectual changes
after pediatric focal resective epilepsy surgery and to identify their predictors. Methods We …

Anti‐ictogenic and antiepileptogenic properties of brivaracetam in mature and immature rats

N Dupuis, A Matagne, L Staelens, P Dournaud… - …, 2015 - Wiley Online Library
Objective Brivaracetam (BRV) is a new antiepileptic drug candidate rationally designed for
high affinity and selectivity for the synaptic vesicle protein 2A. This study explored anti …