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20. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

Author

Datta, AN, Bahi-Buisson, N, Bienvenu, T, Buerki, SE, Gardiner, F, Cross, JH, Heron, B, Kaminska, A, Korff, CM, Lepine, A, Lesca, G, McTague, A, Mefford, HC, Mignot, C, Milh, M, Piton, A, Pressler, RM, Ruf, S, Sadleir, LG, de Saint Martin, A, Van Gassen, K, Verbeek, NE, Ville, D, Villeneuve, N, Zacher, P, Scheffer, IE, Lemke, JR, Datta, AN, Bahi-Buisson, N, Bienvenu, T, Buerki, SE, Gardiner, F, Cross, JH, Heron, B, Kaminska, A, Korff, CM, Lepine, A, Lesca, G, McTague, A, Mefford, HC, Mignot, C, Milh, M, Piton, A, Pressler, RM, Ruf, S, Sadleir, LG, de Saint Martin, A, Van Gassen, K, Verbeek, NE, Ville, D, Villeneuve, N, Zacher, P, Scheffer, IE, and Lemke, JR

Abstract

OBJECTIVE: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis. METHODS: We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic ALG13 variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic ALG13 variants. RESULTS: The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6 months of life and with spasm persistence in one-half of the cases. Tonic seizures were the most prevalent additional seizure type. Electroencephalography showed hypsarrhythmia and at a later stage of the disease in one-third of all cases paroxysms of fast activity with electrodecrement. ALG13-related DEE was usually associated with severe to profound developmental delay; ambulation was acquired by one-third of the cases, whereas purposeful hand use was sparse or completely absent. Hand stereotypies and dyskinetic movements including dystonia or choreoathetosis were relatively frequent. Verbal communication skills were absent or poor, and eye contact and pursuit were often impaired. SIGNIFICANCE: X-linked ALG13-related DEE usually manifests as West syndrome with severe to profound developmental delay. It is predominantly caused by the recurrent de novo missense variant p.(Asn107Ser). Comprehensive functional studies will be able to prove or disprove an association with congenital disorder of glycosylation.

Published
2021

26. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Author

Lebre, A S, Rio, M, Faivre dʼArcier, L, Vernerey, D, Landrieu, P, Slama, A, Jardel, C, Laforêt, P, Rodriguez, D, Dorison, N, Galanaud, D, Chabrol, B, Paquis-Flucklinger, V, Grévent, D, Edvardson, S, Steffann, J, Funalot, B, Villeneuve, N, Valayannopoulos, V, de Lonlay, P, Desguerre, I, Brunelle, F, Bonnefont, J P, Rötig, A, Munnich, A, and Boddaert, N

Published
2011
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27. Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens A Randomized Clinical Trial

Author

Nabbout, R., Mistry, A., Zuberi, S., Villeneuve, N., Gil-Nagel, A., Sanchez-Carpintero, R., Stephani, U., Laux, L., Wirrell, E., Knupp, K., Chiron, C., Farfel, G., Striano, P, Galer, B. S., Morrison, G., Lock, M., Agarwal, A., and Auvin, S.

Subjects
Male, Pediatrics, medicine.medical_specialty, Drug Resistant Epilepsy, Dose, Adolescent, Fenfluramine, Epilepsies, Myoclonic, Placebo, law.invention, 03 medical and health sciences, 0302 clinical medicine, Pharmacotherapy, Dravet syndrome, Randomized controlled trial, Double-Blind Method, law, Stiripentol, Medicine, Humans, In patient, 030212 general & internal medicine, Child, business.industry, Dioxolanes, medicine.disease, Child, Preschool, Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Selective Serotonin Reuptake Inhibitors, medicine.drug
Abstract

IMPORTANCE Fenfluramine treatment may reduce monthly convulsive seizure frequency in patients with Dravet syndrome who have poor seizure control with their current stiripentol-containing antiepileptic drug regimens. OBJECTIVE To determine whether fenfluramine reduced monthly convulsive seizure frequency relative to placebo in patients with Dravet syndrome who were taking stiripentol-inclusive regimens. DESIGN, SETTING, AND PARTICIPANTS This double-blind, placebo-controlled, parallel-group randomized clinical trial was conducted in multiple centers. Eligible patients were children aged 2 to 18 years with a confirmed clinical diagnosis of Dravet syndrome who were receiving stable, stiripentol-inclusive antiepileptic drug regimens. INTERVENTIONS Patients with 6 or more convulsive seizures during the 6-week baseline period were randomly assigned to receive fenfluramine, 0.4 mg/kg/d (maximum, 17 mg/d), or a placebo. After titration (3 weeks), patients’ assigned dosages were maintained for 12 additional weeks. Caregivers recorded seizures via a daily electronic diary. MAIN OUTCOMES AND MEASURES The primary efficacy end point was the change in mean monthly convulsive seizure frequency between fenfluramine and placebo during the combined titration and maintenance periods relative to baseline. RESULTS A total of 115 eligible patients were identified; of these, 87 patients (mean [SD], age 9.1 [4.8] years; 50 male patients [57%]; mean baseline frequency of seizures, approximately 25 convulsive seizures per month) were enrolled and randomized to fenfluramine, 0.4 mg/kg/d (n = 43) or placebo (n = 44). Patients treated with fenfluramine achieved a 54.0% (95% CI, 35.6%-67.2%; P < .001) greater reduction in mean monthly convulsive seizure frequency than those receiving the placebo. With fenfluramine, 54% of patients demonstrated a clinically meaningful (50%) reduction in monthly convulsive seizure frequency vs 5% with placebo (P < .001). The median (range) longest seizure-free interval was 22 (3.0-105.0) days with fenfluramine and 13 (1.0-40.0) days with placebo (P = .004). The most common adverse events were decreased appetite (19 patients taking fenfluramine [44%] vs 5 taking placebo [11%]), fatigue (11 [26%] vs 2 [5%]), diarrhea (10 [23%] vs 3 [7%]), and pyrexia (11 [26%] vs 4 [9%]). Cardiac monitoring demonstrated no clinical or echocardiographic evidence of valvular heart disease or pulmonary arterial hypertension. CONCLUSIONS AND RELEVANCE Fenfluramine demonstrated significant improvements in monthly convulsive seizure frequency in patients with Dravet syndrome whose conditions were insufficiently controlled with stiripentol-inclusive antiepileptic drug regimens. Fenfluramine was generally well tolerated. Fenfluramine may represent a new treatment option for Dravet syndrome. TRIAL REGISTRATION ClinicalTrials.gov identifier: NCT02926898

Published
2020

28. Réflexion sur l’utilisation de drones comme vecteurs robotiques pour l’exploration en environnements extrêmes et/ou difficiles d’accès

Author

Foucher, Frédéric, Guimbretiere, G., Hickman-Lewis, K., Messori, F., Westall, F., Bergounioux, M., Villeneuve, N., Di Muro, A., Finizola, A., Delcher, E., Lapierre, L., Druon, S., Queffelec, A., Centre de biophysique moléculaire (CBM), Université d'Orléans (UO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Conditions Extrêmes et Matériaux : Haute Température et Irradiation (CEMHTI), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université d'Orléans (UO), Mathématiques - Analyse, Probabilités, Modélisation - Orléans (MAPMO), Centre National de la Recherche Scientifique (CNRS)-Université d'Orléans (UO), Institut de Recherche pour le Développement (IRD), Institut de Physique du Globe de Paris (IPGP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut national des sciences de l'Univers (INSU - CNRS)-IPG PARIS-Université Paris Diderot - Paris 7 (UPD7)-Université de La Réunion (UR)-Centre National de la Recherche Scientifique (CNRS), and Centre National d'Études Spatiales [Toulouse] (CNES)

Subjects
[SPI]Engineering Sciences [physics], ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2019

31. Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Author

Trivisano, M, Ferretti, A, Bebin, E, Huh, L, Lesca, G, Siekierska, A, Takeguchi, R, Carneiro, M, De Palma, L, Guella, I, Haginoya, K, Shi, RM, Kikuchi, A, Kobayashi, T, Jung, J, Lagae, L, Milh, M, Mathieu, ML, Minassian, BA, Novelli, A, Pietrafusa, N, Takeshita, E, Tartaglia, M, Terracciano, A, Thompson, ML, Cooper, GM, Vigevano, F, Villard, L, Villeneuve, N, Buyse, GM, Demos, M, Scheffer, IE, Specchio, N, Trivisano, M, Ferretti, A, Bebin, E, Huh, L, Lesca, G, Siekierska, A, Takeguchi, R, Carneiro, M, De Palma, L, Guella, I, Haginoya, K, Shi, RM, Kikuchi, A, Kobayashi, T, Jung, J, Lagae, L, Milh, M, Mathieu, ML, Minassian, BA, Novelli, A, Pietrafusa, N, Takeshita, E, Tartaglia, M, Terracciano, A, Thompson, ML, Cooper, GM, Vigevano, F, Villard, L, Villeneuve, N, Buyse, GM, Demos, M, Scheffer, IE, and Specchio, N

Abstract

Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electroclinical phenotypic spectrum of patients with pathogenic FHF1 variants. We retrospectively collected clinical, genetic, neurophysiologic, and neuroimaging data of 17 patients with FHF1-DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy, 14 (82.3%) intellectual disability, and 11 (64.7%) behavioral disturbances. Brain magnetic resonance imaging (MRI) showed mild cerebral and/or cerebellar atrophy in nine patients (52.9%). Overall, our findings expand and refine the clinical, EEG, and imaging phenotype of patients with FHF1-DEE, which is characterized by early onset epilepsy with tonic seizures, associated with moderate to severe ID and psychiatric features.

Published
2020

38. How shear helps lava to flow

Author

Harris, A., primary, Mannini, S., additional, Thivet, S., additional, Chevrel, M.O., additional, Gurioli, L., additional, Villeneuve, N., additional, Di Muro, A., additional, and Peltier, A., additional

Published
2019
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