Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Autor: Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda

Publikováno v: PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)

Externí odkaz: https://doaj.org/article/a5c2a9a5ae1d4309b4ff3807c966e1af

Duplication 2p16 is associated with perisylvian polymicrogyria

Autor: Bernard Dan, Jennifer S. Goldman, Christopher A. Walsh, William B. Dobyns, Nicolas Deconinck, Frederick Andermann, Annapurna Poduri, Javad Nadaf, Dina Amrom, Eva Andermann, Bruno Pichon

Publikováno v: American Journal of Medical Genetics Part A. 179:2343-2356

Polymicrogyria (PMG) is a heterogeneous brain malformation that may result from prenatal vascular disruption or infection, or from numerous genetic causes that still remain difficult to identify. We identified three unrelated patients with polymicrog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373574fd4dfef5092d126916692a4f33
https://doi.org/10.1002/ajmg.a.61342

Myoclonus epilepsy and ataxia due toKCNC1mutation: Analysis of 20 cases and K+channel properties

Autor: Frederick Andermann, Zaid Afawi, Krystyna Spodar, Laura Licchetta, Francesca Bisulli, Rachel Straussberg, Laura Canafoglia, Snezana Maljevic, Bernt A. Engelsen, Silvana Franceschetti, Simone Mandelstam, Samuel F. Berkovic, Rikke S. Møller, Annette Wulf, Eva Andermann, João Massano, Francesca Ragona, Elena Gardella, Carlo Di Bonaventura, Steven Petrou, Patrizia Riguzzi, Guido Rubboli, Carol J. Milligan, Anna-Elina Lehesjoki, Karen Oliver, Ferruccio Panzica, Elena Pasini, Amos D. Korczyn, Mikko Muona, Roberto Michelucci, Daniel Friedman, Anna M. Boguszewska-Chachulska, Holger Lerche, Matthias Lindenau, Felix Benninger, Christopher A. Reid, Bruria Ben-Zeev, Paolo Tinuper, Arielle Crespel, Anetta Lasek-Bal

Publikováno v: Oliver, K L, Franceschetti, S, Milligan, C J, Muona, M, Mandelstam, S A, Canafoglia, L, Boguszewska-Chachulska, A M, Korczyn, A D, Bisulli, F, Di Bonaventura, C, Ragona, F, Michelucci, R, Ben-Zeev, B, Straussberg, R, Panzica, F, Massano, J, Friedman, D, Crespel, A, Engelsen, B A, Andermann, F, Andermann, E, Spodar, K, Lasek-Bal, A, Riguzzi, P, Pasini, E, Tinuper, P, Licchetta, L, Gardella, E, Lindenau, M, Wulf, A, Møller, R S, Benninger, F, Afawi, Z, Rubboli, G, Reid, C A, Maljevic, S, Lerche, H, Lehesjoki, A-E, Petrou, S & Berkovic, S F 2017, ' Myoclonus epilepsy and ataxia due to KCNC1 mutation : Analysis of 20 cases and K(+) channel properties ', Annals of Neurology, vol. 81, no. 5, pp. 677-689 . https://doi.org/10.1002/ana.24929

OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.METHODS: We analyz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e24095de7d217867a83d748eead4731
https://doi.org/10.1002/ana.24929

Kufs disease due to mutation of CLN6: Clinical, pathological and molecular genetic features

Autor: Cigdem Ozkara, Angelo Labate, Sara E. Mole, Alan McDougall, Antonio Gambardella, Michael S. Hildebrand, Sulekha Rajagopalan, Vincenzo Belcastro, Danya F. Vears, Hans Henrik M. Dahl, Loretta Giuliano, Karen Oliver, Michael Farrell, Vito Sofia, Barbara Garavaglia, Samuel F. Berkovic, Frederick Andermann, Julia Rankin, Silvana Franceschetti, Stirling Carpenter, Michela Morbin, Alessandro Simonati, Eva Andermann, Penina Krieger, Umberto Aguglia, John A. Damiano, Adam Zeman, Barbara Castellotti, Susan Brammah, Filippo M. Santorelli, Laura Canafoglia

Publikováno v: Brain (Online) 142 (2019): 59–69. doi:10.1093/brain/awy297
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo M. Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15,16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21,22, Eva Andermann 21,22, Hans-Henrik M. Dahl 1, Silvana Franceschetti 2 and Stirling Carpenter 23/titolo:Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features./doi:10.1093%2Fbrain%2Fawy297/rivista:Brain (Online)/anno:2019/pagina_da:59/pagina_a:69/intervallo_pagine:59–69/volume:142

Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8a4d4b1478c3413fb6151e97cff45d
http://hdl.handle.net/20.500.11769/407712

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

Autor: Frederick Andermann, Richard J. Leventer, Waney Squier, Eva Andermann, Yves Robitaille, Anna Jansen, Nandini Mullatti, Mrinalini Honavar

Publikováno v: Developmental Medicine & Child Neurology. 58:39-48

Aim Polymicrogyria (PMG) is one of the most common forms of cortical malformation yet the mechanism of its development remains unknown. This study describes the histopathological aspects of PMG in a large series including a significant proportion of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b70d2137e94fd970f066abc43e7c18e8
https://doi.org/10.1111/dmcn.12840