First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Autor: Rebecca Buchert, Zaid Ghanem, Mohammed Falana, Peter Bauer, Suhail Ayesh, Hiyam Marzouqa, Yvonne Schelling, Rajech Sharkia, Holger Hengel, Osama Balousha, Werner Deigendesch, Ghassan Balousha, Abdussalam Azem, Ludger Schöls, Jimmy Zaidan, Marc Sturm, Muhammad Mahajnah, Reinhard Keimer, Tobias B. Haack

Publikováno v: European Journal of Human Genetics
European journal of human genetics 28(8), 1034-1043 (2020). doi:10.1038/s41431-020-0609-9

A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049475c95708e15ef7a4bbb6f3325c93
https://doi.org/10.1038/s41431-020-0609-9

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Autor: Ali Al Asmari, Emmanuelle Szenker-Ravi, Carine Bonnard, Bruno Reversade, Laura Schultz-Rogers, I. Kraegeloh-Mann, Maha Abdulrahim, Hesham Aldhalaan, Byrappa Venkatesh, Célia Bosso-Lefèvre, Aida Telegrafi, Hiyam M. Marzouqa, Gunaseelan Narayanan, Sha Tang, Sonal Mahida, Melanie A. Simpson, Fowzan S. Alkuraya, Michelle Eio, Eissa Faqeih, Renske Oegema, Sarah Weckhuysen, George Grady, Joseph J. Barycki, Mohammed Al-Owain, Lamyaa A. Jad, David A. Koolen, Marjon van Slegtenhorst, Tyler Mark Pierson, Marisa V. Andrews, Rebecca Schüle, Reinhard Keimer, Amber Begtrup, Sateesh Maddirevula, Michael Muriello, Sakkubai Naidu, Damien Haye, Adel A H Mahmoud, Brian Ciruna, Abdullah Tamim, Thong Teck Tan, Rolph Pfundt, Peter Bauer, Jiin Ying Lim, Ali Awaji, Marco Tartaglia, Meral Gunay-Aygun, Eric W. Klee, Marcia C. Willing, Monica Yau, Angelika Riess, Diego Martinelli, Sabina Barresi, Sumanty Tohari, Werner Deigendesch, Dirk Lefeber, Saumya Shekhar Jamuar, Ludger Schöls, Ralitza H. Gavrilova, Alvin Yu Jin Ng, Hannah Stamberger, Suleyman Gulsuner, Adam Claridge-Chang, Élise Lebigot, Moeenaldeen Al-Sayed, Ee Shien Tan, Kagistia Hana Utami, Sarah B. Pierce, Helene Verhelst, Hankun Li, James C. Stewart, Ingo Helbig, Tal Gilboa, Mahmoud A. Pouladi, Hagar Mor-Shaked, Boris Keren, Ajay S. Mathuru, Holger Hengel, Michèl A.A.P. Willemsen, Nader Handal, Tahsin Stefan Barakat, Sulwan M. Algain, Terrence Thomas, Lance H. Rodan, Mais Hashem, Wendy G. Mitchell

Publikováno v: Nature communications, 11(1):595. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS

Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c2c7e1b70693539f410e6b9be36256
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

Autor: Finbar J K O'Callaghan, Stuart W Edwards, Fabienne Dietrich Alber, Mario Cortina Borja, Eleanor Hancock, Anthony L Johnson, Colin R Kennedy, Marcus Likeman, Andrew L Lux, Mark T Mackay, Andrew A Mallick, Richard W Newton, Melinda Nolan, Ronit Pressler, Dietz Rating, Bernhard Schmitt, Christopher M Verity, John P Osborne, Maysara Abdel Aziz, Triloknath Acharya, Carolyn Adcock, Robert Jones, Rachel Howells, Ben Marsh, Kemi Adejare, Rashmi Adiga, Mary Wheater, Mansoor Ahmed, Mohammad Sawal, Chhavi Goel, MAS Ahmed, Michael Alber, Markus Wolff, Susanne Ruf, Asya Al-Kharusi, Hassan Al-Moasseb, Ruchi Arora, Richard Beach, Patricia Atkinson, Kunle Ayonrinde, Pronab Bala, Nicola Bamford, Nagi Barakat, Nigel Basheer, Peter Baxter, Santosh Mordekar, Chris Rittey, Ingo Borggraefe, Peter Borusiak, Sabine Cagnoli, Richard Brown, Sophie Calvert, Duncan Cameron, Ramesh Chaniyil, Ravi Chinthapalli, Gabriel Chow, William Whitehouse, Vinodhini Clarke, Chris Cooper, Alexane Datta, Selwyn D'Costa, Christian de Goede, Helen Basu, David Deekollu, Adela Della Marina, Penelope Dison, Colin Dunkley, Megan Eaton, Julie Ellison, Robert Pugh, Penny Fallon, Hani Faza, Imti Choonara, Richard Morton, Mal Ratnayaka, Colin Ferrie, Amanda Freeman, Stephen Warriner, Maria Garcia, Malihe Ghazavi, Frances Gibbon, John Gibbs, Des Ginbey, Iolanda Guarino, Rajesh Gupta, Mary Hanlon, Siân Harris, Paul Munyard, Cheryl Hemingway, Christin Eltze, Marios Kaliakatsos, Velayutham Murugan, Robert Robinson, Jeen Tan, Daniel Hindley, Adrian Hughes, Akmal Hussain, Greg Boden, Munir Hussain, Nahin Hussain, Lyvia Dabydeen, Kate Irwin, Julia Jacobs, Praveen Jauhari, Philip Minchom, Simon Jones, Michael Karenfort, Reinhard Keimer, Colin Kennedy, Fenella Kirkham, Andrea Whitney, Martin Kirkpatrick, Alice Jollands, Rachel Kneen, Anand Iyer, Amy McTague, Stefan Spinty, Ramesh Kumar, Gerhard Kurlemann, Matthew Lee, Eman Jurges, Robert Levy, Helen Lewis, Hilary Lewis, Andrew Lloyd Evans, Ne-Ron Loh, John Osborne, Finbar O'Callaghan, Hilary Maddicks, Thomas Luecke, Andrew Lux, Anirban Majumdar, Kayal Vijayakumar, Mark MacKay, Jeremy Freeman, Michael Hayman, Andrew Kornberg, Rick Leventer, Monique Ryan, Tyson Ware, Penny Mancais, Katina Marinaki, Albert Massarano, Satheesh Mathew, Ailsa McLellan, Colin Melville, Leena Mewasingh, Hiltrud Muhle, Eisawi Nagmeldin, Jeyashree Natarajan, Suresh Nelapatla, Jailosi Gondwe, Richard Newton, Imelda Hughes, Tim Martland, Gary McCullagh, Grace Vassallo, Stephen Nirmal, Suzanne Davis, Rakesh Patel, Cynthia Sharpe, Anas Olabi, Kevin O'Neill, Jim Gould, Axel Panzer, Manuela Theophil, Srinivas Parepalli, Frank Hinde, Martin Smith, Alasdair Parker, Manali Chitre, Sunny Philip, Rajat Gupta, Evangeline Wassmer, Mike Pike, Tony McShane, Nandhini Prakash, Beena Padmakumar, Clair Pridmore, Viola Prietsch, Peter Krieg, Ros Quinlivan, Michael Quinn, Andrew Collinson, Usha Rajalingam, Karl Rakshi, Tekki Rao, Asha Ravi, Rob Rifkin, Helen Roper, Piers Rowlandson, Lynette Sadleir, Sanjay Sahi, Arun Saraswatula, Siobhan O'Sullivan, Kethar Saravanan, Alastair Scammell, Sudhakar Rao, Susanne Schubert-Bast, David J Scott, Fraser Scott, Matthew Pye, Ayaz Shah, Elma Stephen, Shambhu Shah, Andrew Butterfill, Pauline Shute, Rajeeva Singh, Brigid Allogoa, Ravinder Singh, Gyanranjan Sinha, Puthuval Sivakumar, Robert Smith, Sivaranjini Sriskandan, Martin Steinert, Michael Strassburg, Susi Strozzi, Geeta Subramanian, Andrew Tandy

Publikováno v: O'Callaghan, F J K, Edwards, S W, Alber, F D, Cortina Borja, M, Hancock, E, Johnson, A L, Kennedy, C R, Likeman, M, Lux, A L, Mackay, M T, Mallick, A A, Newton, R W, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, C M & Osborne, J P 2018, ' Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial ', The Lancet Child & Adolescent Health, vol. 2, no. 10, pp. 715-725 . https://doi.org/10.1016/S2352-4642(18)30244-X

BACKGROUND: Infantile spasms constitute a severe form of epileptic encephalopathy. In the International Collaborative Infantile Spasms Study (ICISS), we showed that combining vigabatrin with hormonal therapy was more effective than hormonal therapy a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3baddd3818a1f9a275daec7e4bbd79
https://eprints.soton.ac.uk/423428/

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Autor: Simona Pellacani, Pasquale Striano, Christian Mühe, Kurt Schlachter, Tobias Loddenkemper, Christine Makowski, Peter Borusiak, Antonietta Coppola, Marina Nikanorova, Joost Nicolai, Reinhard Keimer, Biayna G. Sukhudyan, Helle Hjalgrim, Sunny Philip, András Fogarasi, Thomas Bast, Susanne Ruf, Michaela Linder-Lucht, Irene Graneß, Gerhard Kluger, Tanja Weisbrod, Steffen Leiz, Christian Korff, Iván Sánchez Fernández, J Lotte, Gerhard Kurlemann, J. Helen Cross, Bernd Wilken, Deyana Valcheva, R. Jeroen Vermeulen, Renzo Guerrini, Petia Dimova, Philipp Wolf

Publikováno v: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 35, 106-110. Elsevier Saunders

Purpose PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8e06f04f3423fb377936020d13fadac
http://hdl.handle.net/11567/854827

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

Autor: Heike Philippi, D. Tarquinio, C von Stülpnagel, Georg-Christoph Korenke, Hiltrud Muhle, Berten Ceulemans, Reinhard Keimer, S. Waltz, C. Jansen, Pasquale Striano, Ch. Thiels, Ingo Helbig, Nicole I. Wolf, T. Kovacevic-Preradovic, Stéphane Auvin, Thomas Bast, A Müller, András Fogarasi, Gerhard Kluger, Bernhard Schmitt, Sunny Philip, Gerd Kurlemann, Renzo Guerrini, Johanna A. Jähn, Sarah E. Buerki, Burkhard Püst

Publikováno v: European journal of paediatric neurology
Mueller, A, Helbig, I, Jansen, C, Bast, T, Guerrini, R, Jaehn, J, Muhle, H, Auvin, S, Korenke, G C, Philip, S, Keimer, R, Striano, P, Wolf, N I, Puest, B, Thiels, C, Fogarasi, A, Waltz, S, Kurlemann, G, Kovacevic-Preradovic, T, Ceulemans, B, Schmitt, B, Philippi, H, Tarquinio, D, Buerki, S, von Stuelpnagel, C & Kluger, G 2016, ' Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy ', European Journal of Paediatric Neurology, vol. 20, no. 1, pp. 147-151 . https://doi.org/10.1016/j.ejpn.2015.09.001
European Journal of Paediatric Neurology, 20(1), 147-151. W.B. Saunders Ltd

Objective: Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy. To date, little is known about effective antiepileptic treatment in this disorder. Method: Accordingly, the aim of this retrospective study was to explore the role

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d90fb905d113bf843c3c624e4ec0e307
http://hdl.handle.net/11567/854873