Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Mireille Cossée, Laurence Faivre, Christophe Philippe, Heifa Hichri, Anne de Saint-Martin, Vincent Laugel, Nadia Bahi-Buisson, Jean-François Lemaitre, Bruno Leheup, Bruno Delobel, Bénédicte Demeer, Karine Poirier, Valérie Biancalana, Jean-Michel Pinoit, Sophie Julia, Jamel Chelly, Didier Devys, Jean-Louis Mande. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. American journal of medical genetics. Part A. vol 155A. issue 1. 2011-05-17. PMID:21204215. |
our study illustrates that arx polya expansions are primarily associated with syndromic mr and shows a higher yield (18% in our cohort) when these mutations are screened in familial cases of mr with epilepsy and/or dystonia. |
2011-05-17 |
2023-08-12 |
Not clear |
Paula Martín-Vaquero, Ronaldo C Da Costa, Rita L Echandi, Christina L Tosti, Michael V Knopp, Steffen Samme. Magnetic resonance imaging of the canine brain at 3 and 7 T. Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association. vol 52. issue 1. 2011-03-10. PMID:21322384. |
the use of 3 and 7 t mr imaging may assist in the elucidation of the pathogenesis of brain disorders, such as epilepsy. |
2011-03-10 |
2023-08-12 |
Not clear |
F Novara, S Beri, R Giorda, E Ortibus, S Nageshappa, F Darra, B Dalla Bernardina, O Zuffardi, H Van Esc. Refining the phenotype associated with MEF2C haploinsufficiency. Clinical genetics. vol 78. issue 5. 2011-02-17. PMID:20412115. |
recently, submicroscopic deletions of the 5q14.3 region have been described in patients with severe mental retardation (mr), stereotypic movements, epilepsy and cerebral malformations. |
2011-02-17 |
2023-08-12 |
Not clear |
Dang Khoa Nguyen, Emilie Rochette, Jean-Maxime Leroux, Gilles Beaudoin, Patrick Cossette, Maryse Lassonde, François Guilber. Value of 3.0 T MR imaging in refractory partial epilepsy and negative 1.5 T MRI. Seizure. vol 19. issue 8. 2011-01-19. PMID:20673641. |
value of 3.0 t mr imaging in refractory partial epilepsy and negative 1.5 t mri. |
2011-01-19 |
2023-08-12 |
Not clear |
Silvia Miano, Oliviero Bruni, Debora Aricò, Maurizio Elia, Raffaele Ferr. Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 31. issue 5. 2011-01-07. PMID:20506030. |
the aim of this study was to assess the presence of sleep breathing disorder and periodic leg movements during sleep (plms), and to evaluate nrem sleep instability in a group of children with mental retardation (mr) and epilepsy. |
2011-01-07 |
2023-08-12 |
human |
Silvia Miano, Oliviero Bruni, Debora Aricò, Maurizio Elia, Raffaele Ferr. Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 31. issue 5. 2011-01-07. PMID:20506030. |
eleven subjects with mr and epilepsy (6 males, age range 9-17 years) were recruited for this study. |
2011-01-07 |
2023-08-12 |
human |
Silvia Miano, Oliviero Bruni, Debora Aricò, Maurizio Elia, Raffaele Ferr. Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 31. issue 5. 2011-01-07. PMID:20506030. |
three children with mr and epilepsy showed an apnea-hypopnea index > 5, two of them had also a plms index > 5. |
2011-01-07 |
2023-08-12 |
human |
Silvia Miano, Oliviero Bruni, Debora Aricò, Maurizio Elia, Raffaele Ferr. Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 31. issue 5. 2011-01-07. PMID:20506030. |
a detailed investigation and treatment of sleep disorders in children affected by mr and epilepsy may have a positive impact on seizure control. |
2011-01-07 |
2023-08-12 |
human |
H P P Gama, A J da Rocha, R M F Valério, C J da Silva, L A L Garci. Hippocampal abnormalities in an MR imaging series of patients with tuberous sclerosis. AJNR. American journal of neuroradiology. vol 31. issue 6. 2010-09-22. PMID:20053803. |
the purpose of this study was to evaluate the occurrence of hippocampal abnormalities on mr imaging in patients with ts to explore the possible underlying mechanisms of the abnormalities and to identify the relationship between an abnormal hf and epilepsy. |
2010-09-22 |
2023-08-12 |
Not clear |
L Grillo, S Reitano, G Belfiore, A Spalletta, S Amata, M Bottitta, C Barone, M Falco, M Fichera, C Roman. Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients. European journal of medical genetics. vol 53. issue 2. 2010-07-14. PMID:20096387. |
further analysis demonstrated that the deletion was inherited from her mother who showed mild mr, short stature, brachycephaly, epilepsy and a borderline personality disorder. |
2010-07-14 |
2023-08-12 |
Not clear |
Mansi B Parekh, Paul R Carney, Hector Sepulveda, Wendy Norman, Michael King, Thomas H Marec. Early MR diffusion and relaxation changes in the parahippocampal gyrus precede the onset of spontaneous seizures in an animal model of chronic limbic epilepsy. Experimental neurology. vol 224. issue 1. 2010-06-28. PMID:20394745. |
early mr diffusion and relaxation changes in the parahippocampal gyrus precede the onset of spontaneous seizures in an animal model of chronic limbic epilepsy. |
2010-06-28 |
2023-08-12 |
rat |
L K Prashanth, S Sinha, A B Taly, A Mahadevan, M K Vasudev, S K Shanka. Spectrum of epilepsy in Wilson's disease with electroencephalographic, MR imaging and pathological correlates. Journal of the neurological sciences. vol 291. issue 1-2. 2010-06-17. PMID:20116809. |
spectrum of epilepsy in wilson's disease with electroencephalographic, mr imaging and pathological correlates. |
2010-06-17 |
2023-08-12 |
Not clear |
Theodore H Schwart. MR imaging and epilepsy--3T or not 3T? That is the question. Epilepsy currents. vol 6. issue 3. 2010-06-10. PMID:16761064. |
mr imaging and epilepsy--3t or not 3t? |
2010-06-10 |
2023-08-12 |
Not clear |
Tobias Breyer, Isabel Wanke, Stefan Maderwald, Friedrich G Woermann, Oliver Kraff, Jens M Theysohn, Alois Ebner, Michael Forsting, Mark E Ladd, Marc Schlaman. Imaging of patients with hippocampal sclerosis at 7 Tesla: initial results. Academic radiology. vol 17. issue 4. 2010-06-08. PMID:20018529. |
high-resolution magnetic resonance (mr) imaging is the central imaging strategy in the evaluation of focal epilepsy. |
2010-06-08 |
2023-08-12 |
Not clear |
Tobias Breyer, Isabel Wanke, Stefan Maderwald, Friedrich G Woermann, Oliver Kraff, Jens M Theysohn, Alois Ebner, Michael Forsting, Mark E Ladd, Marc Schlaman. Imaging of patients with hippocampal sclerosis at 7 Tesla: initial results. Academic radiology. vol 17. issue 4. 2010-06-08. PMID:20018529. |
the most common substrate of temporal epilepsies is hippocampal sclerosis (hs), which cannot always be sufficiently characterized with current mr field strengths. |
2010-06-08 |
2023-08-12 |
Not clear |
Tobias Breyer, Isabel Wanke, Stefan Maderwald, Friedrich G Woermann, Oliver Kraff, Jens M Theysohn, Alois Ebner, Michael Forsting, Mark E Ladd, Marc Schlaman. Imaging of patients with hippocampal sclerosis at 7 Tesla: initial results. Academic radiology. vol 17. issue 4. 2010-06-08. PMID:20018529. |
therefore, the purpose of our study was to demonstrate the feasibility of high-resolution mr imaging at 7 tesla in patients with focal epilepsy resulting from a hs and to improve image resolution at 7 tesla in patients with hs. |
2010-06-08 |
2023-08-12 |
Not clear |
Andrew A Maudsley, Claudia Domenig, R Eugene Ramsay, Brian C Bowe. Application of volumetric MR spectroscopic imaging for localization of neocortical epilepsy. Epilepsy research. vol 88. issue 2-3. 2010-05-03. PMID:19926450. |
application of volumetric mr spectroscopic imaging for localization of neocortical epilepsy. |
2010-05-03 |
2023-08-12 |
Not clear |
Verena Brodbeck, Laurent Spinelli, Agustina M Lascano, Claudio Pollo, Karl Schaller, Maria I Vargas, Michael Wissmeyer, Christoph M Michel, Margitta Seec. Electrical source imaging for presurgical focus localization in epilepsy patients with normal MRI. Epilepsia. vol 51. issue 4. 2010-05-03. PMID:20196796. |
patients with magnetic resonance (mr)-negative focal epilepsy (mrn-e) have less favorable surgical outcomes (between 40% and 70%) compared to those in whom an mri lesion guides the site of surgical intervention (60-90%). |
2010-05-03 |
2023-08-12 |
Not clear |
Sunhee Kim, Noriko Salamon, Hollie A Jackson, Stefan Blüml, Ashok Panigrah. PET imaging in pediatric neuroradiology: current and future applications. Pediatric radiology. vol 40. issue 1. 2010-04-08. PMID:19937235. |
the current use of co-registration of pet with mr imaging is exemplified in regard to pediatric epilepsy. |
2010-04-08 |
2023-08-12 |
Not clear |
Bregje W M van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Susan Moloney, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert B A de Vrie. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European journal of human genetics : EJHG. vol 18. issue 2. 2010-02-24. PMID:19809484. |
six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (mr), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. |
2010-02-24 |
2023-08-12 |
Not clear |