Top 5 des problèmes somatiques chez les personnes en situation de handicap mental avec troubles du comportement

Autor: Ba, Marieme, Daniluk, Anna Maria, Salamun, Julien, Haller, Dagmar M., Heritier Barras, Anne-Chantal

Publikováno v: Revue médicale suisse, Vol. 16, No 708 (2020) pp. 1796-1800

Les troubles du comportement chez les adultes en situation de handicap mental sont très fréquents et représentent un défi diagnostique. En effet, ils cachent souvent un problème somatique, par ailleurs plus fréquent dans cette population compar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d015bc2858f0152d6989d0769494a58d
https://doi.org/10.53738/revmed.2020.16.708.1796

Mood, anxiety, and perceived quality of life in adults with epilepsy and intellectual disability

Autor: Jans S. van Ool, Francesca M. Snoeijen-Schouwenaars, In Y. Tan, Helenius J. Schelhaas, Albert P. Aldenkamp, Jos G.M. Hendriksen

Publikováno v: Acta Neurologica Scandinavica, 139(6), 519-525. Wiley
Acta Neurologica Scandinavica, 139(6), 519-525. Wiley-Blackwell

Objective: Depression and anxiety symptoms are common among patients with epilepsy, but are relatively under-researched in patients with both epilepsy and intellectual disability (ID). The aim was to investigate whether epilepsy and ID characteristic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c9ea9273767c6eebd21530b414f024
https://doi.org/10.1111/ane.13085

Defining the phenotypic spectrum of SLC6A1 mutations

Autor: Elena Gardella, Diane Doummar, Orrin Devinsky, Nicola Specchio, Holly Dubbs, Lance H. Rodan, Caroline Nava, Elise Schaefer, Jessica E. Shaw, Desiree Czapansky-Beilman, Tarja Linnankivi, Rikke S. Møller, Helenius J. Schelhaas, Kathrine L. Helbig, Jakob Christensen, Jamel Chelly, Gemma L. Carvill, Sarah E. Hopkins, Sara Chadwick Reichert, Marina Trivisano, Amélie Piton, Candace T. Myers, Pasquale Striano, Katrine M Johannesen, Alexandra Afenjar, Judith S. Verhoeven, John Millichap, Yongjin Yoo, Oriano Mecarelli, Murim Choi, Jong Hee Chae, Joseph G. Gleeson, Heather C Mefford, Gaetan Lesca, Laura Pisani, Boris Keren, Sha Tang, Marie Thérèse Abi-Warde, Carolina Courage, Ingo Helbig, Deb K. Pal, Guido Rubboli, Lynne M. Bird, Manuela Pendziwiat, Cyril Mignot, Shan Tang, J. Lawrence Merritt, Yvonne G. Weber, Anna-Elina Lehesjoki, Wen-Hann Tan, Anne de Saint Martin, Mark Nespeca

Publikováno v: Epilepsia
Epilepsia, Wiley, 2018, 32 (2), pp.389-402. ⟨10.1111/epi.13986⟩
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Rubboli, G & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A-E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M-T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W-H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J-H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Helbig, I, Rubboli, G, Mefford, H C & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986
Epilepsia, vol 59, iss 2

OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.METHODS: We co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d17b86f7659d7ea2518638ed36fe82
http://hdl.handle.net/11573/1076617

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Autor: Alexander Dreweke, Alfredo Orrico, Christiane Zweier, Koenraad Devriendt, Raoul C.M. Hennekam, Jorge A. Saraiva, Thomy de Ravel, Sérgio B. Sousa, Armand Bottani, Juliane Hoyer, André Reis, William Reardon, Jill Clayton-Smith, Emilia K. Bijlsma, Peter Nürnberg, Ina Göhring, Monika Cohen, Maarit Peippo, Alexandra Cabral, Anita Rauch

Publikováno v: American journal of human genetics, 80(5), 994-1001. Cell Press

Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7da20c1f1375a2e304ac0de8c71b6389

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Autor: Jill A. Rosenfeld, Marwan Shinawi, Scott Saunders, Livija Medne, Shashikant Kulkarni, Avinash V. Dharmadhikari, Carsten G. Bönnemann, Suneeta Madan-Khetarpal, Pawel Stankiewicz, Samarth Bhatt, Stephanie E. Vallee, Fernando Scaglia, Marshall L. Summar, Zhilian Xia, Carlos A. Bacino, Ann Martin, Brendan Lee, Alexander Asamoah, Jacques S. Beckmann, Wendy E. Smith, Sau Wai Cheung, Sumit Parikh, Rizwan Hamid, Tracy L. McGregor, Amber N. Pursley, Jean P. Pfotenhauer, Kathryn Platky, Lisa G. Shaffer, Chad A. Shaw, Ankita Patel, Polly Irwin, Paul S. Simons, Dorothy K. Grange, Sung-Hae L. Kang, Gary Bellus, Victoria P. Dalzell, John B. Moeschler, Jennifer Kussmann, Srirangan Sampath, Danielle Martinet, Alex R. Paciorkowski, Michael J. Noetzel, Carolyn Lovell, Susan Sparks, Blake C. Ballif, Kathryn Golden-Grant, Florence Fellmann, David B. Flannery, Jacqueline M. Hoover, Tamim H. Shaikh, M. Lance Cooper, Valerie Banks, Jerome L. Gorski

Publikováno v: Human Mutation, vol. 33, no. 1, pp. 165-179

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c5ff84f9bf9a002bde387a5c6e38cf
https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdf