8 results on '"Billette, Thierry"'
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2. Pathogenic variants inKCNQ2cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy
- Author
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Mary, Laura, primary, Nourisson, Elsa, additional, Feger, Claire, additional, Laugel, Vincent, additional, Chaigne, Denys, additional, Keren, Boris, additional, Afenjar, Alexandra, additional, Billette, Thierry, additional, Trost, Detlef, additional, Cieuta‐Walti, Cécile, additional, Gerard, Bénédicte, additional, Piton, Amélie, additional, and Schaefer, Elise, additional
- Published
- 2021
- Full Text
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3. Movement disorders in patients with alternating hemiplegia: 'Soft' and 'stiff' at the same time.
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UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, UCL - (SLuc) Service de neurologie pédiatrique, Panagiotakaki, Eleni, Doummar, Diane, Nogue, Erika, Nagot, Nicolas, Lesca, Gaetan, Riant, Florence, Nicole, Sophie, Delaygue, Charlene, Barthez, Marie Anne, Nassogne, Marie-Cécile, Dusser, Anne, Vallée, Louis, Billette, Thierry, Bourgeois, Marie, Ioos, Christine, Gitiaux, Cyril, Laroche, Cécile, Milh, Mathieu, Portes, Vincent Des, Arzimanoglou, Alexis, Roubertie, Agathe, AHC–Movement Disorder Study Group, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, UCL - (SLuc) Service de neurologie pédiatrique, Panagiotakaki, Eleni, Doummar, Diane, Nogue, Erika, Nagot, Nicolas, Lesca, Gaetan, Riant, Florence, Nicole, Sophie, Delaygue, Charlene, Barthez, Marie Anne, Nassogne, Marie-Cécile, Dusser, Anne, Vallée, Louis, Billette, Thierry, Bourgeois, Marie, Ioos, Christine, Gitiaux, Cyril, Laroche, Cécile, Milh, Mathieu, Portes, Vincent Des, Arzimanoglou, Alexis, Roubertie, Agathe, and AHC–Movement Disorder Study Group
- Abstract
OBJECTIVE: To assess nonparoxysmal movement disorders in ATP1A3 mutation-positive patients with alternating hemiplegia of childhood (AHC). METHODS: Twenty-eight patients underwent neurologic examination with particular focus on movement phenomenology by a specialist in movement disorders. Video recordings were reviewed by another movement disorders specialist and data were correlated with patients' characteristics. RESULTS: Ten patients were diagnosed with chorea, 16 with dystonia (nonparoxysmal), 4 with myoclonus, and 2 with ataxia. Nine patients had more than one movement disorder and 8 patients had none. The degree of movement disorder was moderate to severe in 12/28 patients. At inclusion, dystonic patients (n = 16) were older (p = 0.007) than nondystonic patients. Moreover, patients (n = 18) with dystonia or chorea, or both, had earlier disease onset (p = 0.042) and more severe neurologic impairment (p = 0.012), but this did not correlate with genotype. All patients presented with hypotonia, which was characterized as moderate or severe in 16/28. Patients with dystonia or chorea (n = 18) had more pronounced hypotonia (p = 0.011). Bradykinesia (n = 16) was associated with an early age at assessment (p < 0.01). Significant dysarthria was diagnosed in 11/25 cases. A history of acute neurologic deterioration and further regression of motor function, typically after a stressful event, was reported in 7 patients. CONCLUSIONS: Despite the relatively limited number of patients and the cross-sectional nature of the study, this detailed categorization of movement disorders in patients with AHC offers valuable insight into their precise characterization. Further longitudinal studies on this topic are needed.
- Published
- 2020
4. Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability
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Barcia, Giulia, Chemaly, Nicole, Kuchenbuch, Mathieu, Eisermann, Monika, Gobin-Limballe, Stephanie, Ciorna, Viorica, Macaya, Alfons, Lambert, Laetitia, Dubois, Fanny, Doummar, Diane, Billette, Thierry, Villeneuve, Nathalie, Barthez, Marie-Anne, Nava, Caroline, Boddaert, Nathalie, Kaminska, Anna, Bahi-Buisson, Nadia, Milh, Mathieu, Auvin, Stephane, Bonnefont, Jean-Paul, Nabbout, Rima, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universitat Autònoma de Barcelona (UAB), CHU Grenoble, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Epilepsies de l'Enfant et Plasticité Cérébrale (U1129), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universitat Autònoma de Barcelona [Barcelona] (UAB), CHU Pitié-Salpêtrière [APHP], Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Article - Abstract
International audience; Objective To report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine.Methods We reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and KCNT1 mutations, in collaboration with the network of the French reference center for rare epilepsies.Results The mean seizure onset age was 1 month (range 1 hour to 4 months), and all children had focal motor seizures with autonomic signs and migrating icta1 pattern on EEG. Three children also had infantile spasms and hypsarrhythmia. The identified KCNT1 variants clustered as "hot spots" on the C-terminal domain, and all mutations occurred de novo except the p.R398Q mutation inherited from the father with nocturnal frontal lobe epilepsy, present in 2 paternal uncles, one being asymptomatic and the other with single tonic-clonic seizure. In 1 patient with EIMFS, we identified the p.R1106Q mutation associated with Brugada syndrome and saw no abnormality in cardiac rhythm. Quinidine was well tolerated when administered to 2 and 4-year-old patients but did not reduce seizure frequency.Conclusions The majority of the KCNT1 mutations appear to cluster in hot spots essential for the channel activity. A same mutation can be linked to a spectrum of conditions ranging from EMFSI to asymptomatic carrier, even in the same family. None of the antiepileptic therapies displayed clinical efficacy, including quinidine in 2 patients.
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- 2018
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5. Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
- Author
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Mary, Laura, Nourisson, Elsa, Feger, Claire, Laugel, Vincent, Chaigne, Denys, Keren, Boris, Afenjar, Alexandra, Billette, Thierry, Trost, Detlef, Cieuta‐Walti, Cécile, Gerard, Bénédicte, Piton, Amélie, and Schaefer, Elise
- Abstract
High‐throughput sequencing (HTS) improved the molecular diagnosis in individuals with intellectual deficiency (ID) and helped to broaden the phenotype of previously known disease‐causing genes. We report herein four unrelated patients with isolated ID, carriers of a likely pathogenic variant in KCNQ2, a gene usually implicated in benign familial neonatal seizures (BFNS) or early onset epileptic encephalopathy (EOEE). Patients were diagnosed by targeted HTS or exome sequencing. Pathogenicity of the variants was assessed by multiple in silico tools. Patients' ID ranged from mild to severe with predominance of speech disturbance and autistic features. Three of the four variants disrupted the same amino acid. Compiling all the pathogenic variants previously reported, we observed a strong overlap between variants causing EOEE, isolated ID, and BFNS and an important intra‐familial phenotypic variability, although missense variants in the voltage‐sensing domain and the pore are significantly associated to EOEE (p < 0.01, Fisher test). Thus, pathogenic variants in KCNQ2 can be associated with isolated ID. We did not highlight strong related genotype–phenotype correlations in KCNQ2‐related disorders. A second genetic hit, a burden of rare variants, or other extrinsic factors may explain such a phenotypic variability. However, it is of interest to study encephalopathy genes in non‐epileptic ID patients. [ABSTRACT FROM AUTHOR]
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- 2021
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6. Profil développemental et cognitif d’enfants et d’adolescents atteints du syndrome de Joubert
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Vanwalleghem, Stéphanie, primary, Sacco, Silvia, additional, Doummar, Diane, additional, Dorison, Nathalie, additional, Héron, Bénédicte, additional, Moutard, Marie-Laure, additional, Billette, Thierry, additional, Ponsot, Gérard, additional, Rodriguez, Diana, additional, Burglen, Lydie, additional, and Chokron, Sylvie, additional
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- 2017
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7. ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
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Mignot, Cyril, primary, Moutard, Marie-Laure, additional, Rastetter, Agnès, additional, Boutaud, Lucile, additional, Heide, Solveig, additional, Billette, Thierry, additional, Doummar, Diane, additional, Garel, Catherine, additional, Afenjar, Alexandra, additional, Jacquette, Aurélia, additional, Lacombe, Didier, additional, Verloes, Alain, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Masson, Cécile, additional, Faudet, Anne, additional, Lesne, Fabien, additional, Bienvenu, Thierry, additional, Alby, Caroline, additional, Attié-Bitach, Tania, additional, Depienne, Christel, additional, Nava, Caroline, additional, and Héron, Delphine, additional
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- 2016
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8. ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
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Mignot, Cyril, Moutard, Marie-Laure, Rastetter, Agnès, Boutaud, Lucile, Heide, Solveig, Billette, Thierry, Doummar, Diane, Garel, Catherine, Afenjar, Alexandra, Jacquette, Aurélia, Lacombe, Didier, Verloes, Alain, Bole-Feysot, Christine, Nitschké, Patrick, Masson, Cécile, Faudet, Anne, Lesne, Fabien, Bienvenu, Thierry, Alby, Caroline, and Attié-Bitach, Tania
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CORPUS callosum ,INTELLECTUAL disabilities ,GENETIC disorders ,PATIENTS ,COMPARATIVE studies ,RESEARCH methodology ,MEDICAL cooperation ,PEOPLE with intellectual disabilities ,GENETIC mutation ,RESEARCH ,TELENCEPHALON ,DNA-binding proteins ,EVALUATION research ,MULTIPLE human abnormalities ,AGENESIS of corpus callosum - Published
- 2016
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