Search Results - "Livet, M O"

Configural and Local Processing of Faces in Children with Williams Syndrome by Deruelle, C., Mancini, J., Livet, M.O., Cassé-Perrot, C., de Schonen, S.

“…Three experiments investigated face processing in children with Williams syndrome (WS). In Experiment 1, the ability to discriminate different aspects of faces…”
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Global and Local processing in Williams Syndrome: Drawing versus Perceiving by Rondan, C., Santos, A., Mancini, J., Livet, M. O., Deruelle, C.

“…It has been hypothesized that a local processing bias underlies overall visuospatial impairments in Williams syndrome (WS). However, recent studies have…”
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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome by Depienne, Christel, Trouillard, Oriane, Gourfinkel-An, Isabelle, Saint-Martin, Cécile, Bouteiller, Delphine, Graber, Denis, Barthez-Carpentier, Marie-Anne, Gautier, Agnès, Villeneuve, Nathalie, Dravet, Charlotte, Livet, Marie-Odile, Rivier-Ringenbach, Clothilde, Adam, Claude, Dupont, Sophie, Baulac, Stéphanie, Héron, Delphine, Nabbout, Rima, Leguern, Eric

“…BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo…”
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Angelman syndrome: correlations between epilepsy phenotypes and genotypes by Minassian, B A, DeLorey, T M, Olsen, R W, Philippart, M, Bronstein, Y, Zhang, Q, Guerrini, R, Van Ness, P, Livet, M O, Delgado-Escueta, A V

“…We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II),…”
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Early clinical and EEG features of infantile spasms in Down syndrome by Silva, M L, Cieuta, C, Guerrini, R, Plouin, P, Livet, M O, Dulac, O

“…The combination of West syndrome (WS) and Down syndrome appears not to be coincidental. Fourteen patients free of cardiac malformation or history of perinatal…”
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Triose phosphate isomerase deficiency in 3 French families : two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris) by VALENTIN, C, PISSARD, S, COHEN-SOLAL, M, MARTIN, J, HERON, D, LABRUNE, P, LIVET, M.-O, MAYER, M, GELBART, T, SCHNEIDER, A, MAX-AUDIT, I

“…Three French families with triose phosphate isomerase (TPI) deficiency were studied, and 2 new mutations giving rise to null alleles were observed: a…”
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Cortical myoclonus in Angelman syndrome by Guerrini, R, De Lorey, T M, Bonanni, P, Moncla, A, Dravet, C, Suisse, G, Livet, M O, Bureau, M, Malzac, P, Genton, P, Thomas, P, Sartucci, F, Simi, P, Serratosa, J M

“…Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11-13. This region encompasses three GABAA receptor subunit genes…”
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The BREV neuropsychological test: Part I. Results from 500 normally developing children by Billard, C, Vol, S, Livet, MO, Motte, J, Vallée, L, Gillet, P

“…The Battery for Rapid Evaluation of Cognitive Functions (Batterie Rapide d'Evaluation des Fonctions Cognitives: BREV) was designed to provide health…”
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Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly by Fogli, Antonella, Guerrini, Renzo, Moro, Francesca, Fernandez-Alvarez, Emilio, Odile Livet, Marie, Renieri, Alessandra, Cioni, Maddalena, Pilz, Daniela T., Veggiotti, Pierangelo, Rossi, Elena, Ballabio, Andrea, Carrozzo, Romeo

“…We report on the genotype–phenotype correlation in 7 patients with classical lissencephaly carrying a heterozygous subtle mutation in the LIS1 gene. Six…”
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Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling by Moncla, Anne, Malzac, Perrine, Livet, Marie-Odile, Voelckel, Marie-Antoinette, Mancini, Josette, Delaroziere, Jean Christophe, Philip, Nicole, Mattei, Jean-François

“…Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in…”
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The BREV neuropsychological test: Part II. Results of validation in children with epilepsy by Billard, C, Motte, J, Farmer, M, Livet, M O, Vallée, L, Gillet, P, Vol, S

“…The Battery for Rapid Evaluation of Cognitive Functions (Batterie Rapide d'Evaluation des Fonctions Cognitives: BREV) is a quick test to screen children with…”
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Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up by Guerrini, R, Dravet, C, Raybaud, C, Roger, J, Bureau, M, Battaglia, A, Livet, M O, Gambarelli, D, Robain, O

“…The authors studied 10 patients (mean age 15 years 6 months) with localized developmental gyral disorder detected by MRI. There were two groups of major…”
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Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI by Guerrini, R, Dravet, C, Raybaud, C, Roger, J, Bureau, M, Battaglia, A, Livet, M O, Colicchio, G, Robain, O

“…The authors studied 10 patients aged between six and 23 years (mean age 14 years 5 months) with magnetic resonance imaging, which detected bilateral…”
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Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases by Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F

“…Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural…”
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Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants by Mathey, C, Di Marco, J-N, Poujol, A, Cournelle, M-A, Brevaut, V, Livet, M-O, Chabrol, B, Michel, G

“…The newborn's vitamin B12 storage exclusively comes from placenta transfer, later from animal food. We relate 3 observations of infants (3-11-13 months) with…”
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Startle response: epileptic or non‐epileptic? The case for “flash” SMA reflex seizures by Cokar, Özlem, Gelisse, Philippe, Livet, Marie‐Odile, Bureau, Michelle, Habib, Michel, Genton, Pierre

“…ABSTRACT A 19‐year‐old woman complained of long‐standing, frequent, debilatating brusque movements triggered by unexpected stimuli. She was neurologically…”
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EVAL MATER: Proposal for a paediatric evaluation of linguistic and psychomotor competences during the 1st medical check-up in nursery school by Mancini, J, Pech-Georgel, C, Brun, F, George, F, Livet, M O, Camps, R, Massoulier, A, Suzineau, E, Guagliardo, V, Verger, P

“…To prevent learning disorders, the authors propose a standardized approach of linguistic competences and psychomotor development in young children. Children…”
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Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients by Moncla, A, Malzac, P, Voelckel, M A, Auquier, P, Girardot, L, Mattei, M G, Philip, N, Mattei, J F, Lalande, M, Livet, M O

“…Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS…”
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Psychopathology in children with epilepsy. Specific information about epilepsy by Livet, M O

“…Childhood epilepsy is frequently concomitant with emotional and psychopathological difficulties. A specific prevention workout of the psychosocial risks is…”
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Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach by Malzac, P, Moncla, A, Voelckel, M A, Livet, M O, Girardot, L, Mattei, M G, Mattei, J F

“…Prader-Willi syndrome (PWS) is a disorder characterized by neonatal hypotonia with poor suck, mild to moderate mental retardation, obesity beginning after 3 yr…”
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