Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author:

Gorman Kathleen M.,Meyer Esther,Grozeva Detelina,Spinelli Egidio,McTague Amy,Sanchis-Juan Alba,Carss Keren J.,Bryant Emily,Reich Adi,Schneider Amy L.,Pressler Ronit M.,Simpson Michael A.,Debelle Geoff D.,Wassmer Evangeline,Morton Jenny,Sieciechowicz Diana,Jan-Kamsteeg Eric,Paciorkowski Alex R.,King Mary D.,Cross J. Helen,Poduri Annapurna,Mefford Heather C.,Scheffer Ingrid E.,Haack Tobias B.,McCullagh Gary,Millichap John J.,Carvill Gemma L.,Clayton-Smith Jill,Maher Eamonn R.,Raymond F. Lucy,Kurian Manju A.,McRae Jeremy F.,Clayton Stephen,Fitzgerald Tomas W.,Kaplanis Joanna,Prigmore Elena,Rajan Diana,Sifrim Alejandro,Aitken Stuart,Akawi Nadia,Alvi Mohsan,Ambridge Kirsty,Barrett Daniel M.,Bayzetinova Tanya,Jones Philip,Jones Wendy D.,King Daniel,Krishnappa Netravathi,Mason Laura E.,Singh Tarjinder,Tivey Adrian R.,Ahmed Munaza,Anjum Uruj,Archer Hayley,Armstrong Ruth,Awada Jana,Balasubramanian Meena,Banka Siddharth,Baralle Diana,Barnicoat Angela,Batstone Paul,Baty David,Bennett Chris,Berg Jonathan,Bernhard Birgitta,Bevan A. Paul,Bitner-Glindzicz Maria,Blair Edward,Blyth Moira,Bohanna David,Bourdon Louise,Bourn David,Bradley Lisa,Brady Angela,Brent Simon,Brewer Carole,Brunstrom Kate,Bunyan David J.,Burn John,Canham Natalie,Castle Bruce,Chandler Kate,Chatzimichali Elena,Cilliers Deirdre,Clarke Angus,Clasper Susan,Clayton-Smith Jill,Clowes Virginia,Coates Andrea,Cole Trevor,Colgiu Irina,Collins Amanda,Collinson Morag N.,Connell Fiona,Cooper Nicola,Cox Helen,Cresswell Lara,Cross Gareth,Crow Yanick,D’Alessandro Mariella,Dabir Tabib,Davidson Rosemarie,Davies Sally,de Vries Dylan,Dean John,Deshpande Charu,Devlin Gemma,Dixit Abhijit,Dobbie Angus,Donaldson Alan,Donnai Dian,Donnelly Deirdre,Donnelly Carina,Douglas Angela,Douzgou Sofia,Duncan Alexis,Eason Jacqueline,Ellard Sian,Ellis Ian,Elmslie Frances,Evans Karenza,Everest Sarah,Fendick Tina,Fisher Richard,Flinter Frances,Foulds Nicola,Fry Andrew,Fryer Alan,Gardiner Carol,Gaunt Lorraine,Ghali Neeti,Gibbons Richard,Gill Harinder,Goodship Judith,Goudie David,Gray Emma,Green Andrew,Greene Philip,Greenhalgh Lynn,Gribble Susan,Harrison Rachel,Harrison Lucy,Harrison Victoria,Hawkins Rose,He Liu,Hellens Stephen,Henderson Alex,Hewitt Sarah,Hildyard Lucy,Hobson Emma,Holden Simon,Holder Muriel,Holder Susan,Hollingsworth Georgina,Homfray Tessa,Humphreys Mervyn,Hurst Jane,Hutton Ben,Ingram Stuart,Irving Melita,Islam Lily,Jackson Andrew,Jarvis Joanna,Jenkins Lucy,Johnson Diana,Jones Elizabeth,Josifova Dragana,Joss Shelagh,Kaemba Beckie,Kazembe Sandra,Kelsell Rosemary,Kerr Bronwyn,Kingston Helen,Kini Usha,Kinning Esther,Kirby Gail,Kirk Claire,Kivuva Emma,Kraus Alison,Kumar Dhavendra,Kumar V. K. Ajith,Lachlan Katherine,Lam Wayne,Lampe Anne,Langman Caroline,Lees Melissa,Lim Derek,Longman Cheryl,Lowther Gordon,Lynch Sally A.,Magee Alex,Maher Eddy,Male Alison,Mansour Sahar,Marks Karen,Martin Katherine,Maye Una,McCann Emma,McConnell Vivienne,McEntagart Meriel,McGowan Ruth,McKay Kirsten,McKee Shane,McMullan Dominic J.,McNerlan Susan,McWilliam Catherine,Mehta Sarju,Metcalfe Kay,Middleton Anna,Miedzybrodzka Zosia,Miles Emma,Mohammed Shehla,Montgomery Tara,Moore David,Morgan Sian,Morton Jenny,Mugalaasi Hood,Murday Victoria,Murphy Helen,Naik Swati,Nemeth Andrea,Nevitt Louise,Newbury-Ecob Ruth,Norman Andrew,O’Shea Rosie,Ogilvie Caroline,Ong Kai-Ren,Park Soo-Mi,Parker Michael J.,Patel Chirag,Paterson Joan,Payne Stewart,Perrett Daniel,Phipps Julie,Pilz Daniela T.,Pollard Martin,Pottinger Caroline,Poulton Joanna,Pratt Norman,Prescott Katrina,Price Sue,Pridham Abigail,Procter Annie,Purnell Hellen,Quarrell Oliver,Ragge Nicola,Rahbari Raheleh,Randall Josh,Rankin Julia,Raymond Lucy,Rice Debbie,Robert Leema,Roberts Eileen,Roberts Jonathan,Roberts Paul,Roberts Gillian,Ross Alison,Rosser Elisabeth,Saggar Anand,Samant Shalaka,Sampson Julian,Sandford Richard,Sarkar Ajoy,Schweiger Susann,Scott Richard,Scurr Ingrid,Selby Ann,Seller Anneke,Sequeira Cheryl,Shannon Nora,Sharif Saba,Shaw-Smith Charles,Shearing Emma,Shears Debbie,Sheridan Eamonn,Simonic Ingrid,Singzon Roldan,Skitt Zara,Smith Audrey,Smith Kath,Smithson Sarah,Sneddon Linda,Splitt Miranda,Squires Miranda,Stewart Fiona,Stewart Helen,Straub Volker,Suri Mohnish,Sutton Vivienne,Swaminathan Ganesh Jawahar,Sweeney Elizabeth,Tatton-Brown Kate,Taylor Cat,Taylor Rohan,Tein Mark,Temple I. Karen,Thomson Jenny,Tischkowitz Marc,Tomkins Susan,Torokwa Audrey,Treacy Becky,Turner Claire,Turnpenny Peter,Tysoe Carolyn,Vandersteen Anthony,Varghese Vinod,Vasudevan Pradeep,Vijayarangakannan Parthiban,Vogt Julie,Wakeling Emma,Wallwark Sarah,Waters Jonathon,Weber Astrid,Wellesley Diana,Whiteford Margo,Widaa Sara,Wilcox Sarah,Wilkinson Emily,Williams Denise,Williams Nicola,Wilson Louise,Woods Geoff,Wragg Christopher,Wright Michael,Yates Laura,Yau Michael,Nellåker Chris,Parker Michael,Firth Helen V.,Wright Caroline F.,FitzPatrick David R.,Barrett Jeffrey C.,Hurles Matthew E.,Al Turki Saeed,Anderson Carl,Anney Richard,Antony Dinu,Artigas Maria Soler,Ayub Muhammad,Balasubramaniam Senduran,Barrett Jeffrey C.,Barroso Inês,Beales Phil,Bentham Jamie,Bhattacharya Shoumo,Birney Ewan,Blackwood Douglas,Bobrow Martin,Bochukova Elena,Bolton Patrick,Bounds Rebecca,Boustred Chris,Breen Gerome,Calissano Mattia,Carss Keren,Chatterjee Krishna,Chen Lu,Ciampi Antonio,Cirak Sebhattin,Clapham Peter,Clement Gail,Coates Guy,Collier David,Cosgrove Catherine,Cox Tony,Craddock Nick,Crooks Lucy,Curran Sarah,Curtis David,Daly Allan,Day-Williams Aaron,Day Ian N.M.,Down Thomas,Du Yuanping,Dunham Ian,Edkins Sarah,Ellis Peter,Evans David,Faroogi Sadaf,Fatemifar Ghazaleh,Fitzpatrick David R.,Flicek Paul,Flyod James,Foley A. Reghan,Franklin Christopher S.,Futema Marta,Gallagher Louise,Geihs Matthias,Geschwind Daniel,Griffin Heather,Grozeva Detelina,Guo Xueqin,Guo Xiaosen,Gurling Hugh,Hart Deborah,Hendricks Audrey,Holmans Peter,Howie Bryan,Huang Liren,Hubbard Tim,Humphries Steve E.,Hurles Matthew E.,Hysi Pirro,Jackson David K.,Jamshidi Yalda,Jing Tian,Joyce Chris,Kaye Jane,Keane Thomas,Keogh Julia,Kemp John,Kennedy Karen,Kolb-Kokocinski Anja,Lachance Genevieve,Langford Cordelia,Lawson Daniel,Lee Irene,Lek Monkol,Liang Jieqin,Lin Hong,Li Rui,Li Yingrui,Liu Ryan,Lönnqvist Jouko,Lopes Margarida,Iotchkova Valentina,MacArthur Daniel,Marchini Jonathan,Maslen John,Massimo Mangino,Mathieson Iain,Marenne Gaëlle,McGuffin Peter,McIntosh Andrew,McKechanie Andrew G.,McQuillin Andrew,Metrustry Sarah,Mitchison Hannah,Moayyeri Alireza,Morris James,Muntoni Francesco,Northstone Kate,O'Donnovan Michael,Onoufriadis Alexandros,O'Rahilly Stephen,Oualkacha Karim,Owen Michael J.,Palotie Aarno,Panoutsopoulou Kalliope,Parker Victoria,Parr Jeremy R.,Paternoster Lavinia,Paunio Tiina,Payne Felicity,Pietilainen Olli,Plagnol Vincent,Quaye Lydia,Quail Michael A.,Raymond Lucy,Rehnström Karola,Ring Susan,Ritchie Graham R.S.,Roberts Nicola,Savage David B.,Scambler Peter,Schiffels Stephen,Schmidts Miriam,Schoenmakers Nadia,Semple Robert K.,Serra Eva,Sharp Sally I.,Shin So-Youn,Skuse David,Small Kerrin,Southam Lorraine,Spasic-Boskovic Olivera,St Clair David,Stalker Jim,Stevens Elizabeth,St Pourcian Beate,Sun Jianping,Suvisaari Jaana,Tachmazidou Ionna,Tobin Martin D.,Valdes Ana,Van Kogelenberg Margriet,Vijayarangakannan Parthiban,Visscher Peter M.,Wain Louise V.,Walters James T.R.,Wang Guangbiao,Wang Jun,Wang Yu,Ward Kirsten,Wheeler Elanor,Whyte Tamieka,Williams Hywel,Williamson Kathleen A.,Wilson Crispian,Wong Kim,Xu ChangJiang,Yang Jian,Zhang Fend,Zhang Pingbo,Aitman Timothy,Alachkar Hana,Ali Sonia,Allen Louise,Allsup David,Ambegaonkar Gautum,Anderson Julie,Antrobus Richard,Armstrong Ruth,Arno Gavin,Arumugakani Gururaj,Ashford Sofie,Astle William,Attwood Antony,Austin Steve,Bacchelli Chiara,Bakchoul Tamam,Bariana Tadbir K.,Baxendale Helen,Bennett David,Bethune Claire,Bibi Shahnaz,Bitner-Glindzicz Maria,Bleda Marta,Boggard Harm,Bolton-Maggs Paula,Booth Claire,Bradley John R.,Brady Angie,Brown Matthew,Browning Michael,Bryson Christine,Burns Siobhan,Calleja Paul,Canham Natalie,Carmichael Jenny,Carss Keren,Caulfield Mark,Chalmers Elizabeth,Chandra Anita,Chinnery Patrick,Chitre Manali,Church Colin,Clement Emma,Clements-Brod Naomi,Clowes Virginia,Coghlan Gerry,Collins Peter,Cooper Nichola,Creaser-Myers Amanda,DaCosta Rosa,Daugherty Louise,Davies Sophie,Davis John,De Vries Minka,Deegan Patrick,Deevi Sri V.V.,Deshpande Charu,Devlin Lisa,Dewhurst Eleanor,Doffinger Rainer,Dormand Natalie,Drewe Elizabeth,Edgar David,Egner William,Erber Wendy N.,Erwood Marie,Everington Tamara,Favier Remi,Firth Helen,Fletcher Debra,Flinter Frances,Fox James C.,Frary Amy,Freson Kathleen,Furie Bruce,Furnell Abigail,Gale Daniel,Gardham Alice,Gattens Michael,Ghali Neeti,Ghataorhe Pavandeep K.,Ghurye Rohit,Gibbs Simon,Gilmour Kimberley,Gissen Paul,Goddard Sarah,Gomez Keith,Gordins Pavel,Gräf Stefan,Greene Daniel,Greenhalgh Alan,Greinacher Andreas,Grigoriadou Sofia,Grozeva Detelina,Hackett Scott,Hadinnapola Charaka,Hague Rosie,Haimel Matthias,Halmagyi Csaba,Hammerton Tracey,Hart Daniel,Hayman Grant,Heemskerk Johan W.M.,Henderson Robert,Hensiek Anke,Henskens Yvonne,Herwadkar Archana,Holden Simon,Holder Muriel,Holder Susan,Hu Fengyuan,Huissoon Aarnoud,Humbert Marc,Hurst Jane,James Roger,Jolles Stephen,Josifova Dragana,Kazmi Rashid,Keeling David,Kelleher Peter,Kelly Anne M.,Kennedy Fiona,Kiely David,Kingston Nathalie,Koziell Ania,Krishnakumar Deepa,Kuijpers Taco W.,Kumararatne Dinakantha,Kurian Manju,Laffan Michael A.,Lambert Michele P.,Allen Hana Lango,Lawrie Allan,Lear Sara,Lees Melissa,Lentaigne Claire,Liesner Ri,Linger Rachel,Longhurst Hilary,Lorenzo Lorena,Machado Rajiv,Mackenzie Rob,MacLaren Robert,Maher Eamonn,Maimaris Jesmeen,Mangles Sarah,Manson Ania,Mapeta Rutendo,Markus Hugh S.,Martin Jennifer,Masati Larahmie,Mathias Mary,Matser Vera,Maw Anna,McDermott Elizabeth,McJannet Coleen,Meacham Stuart,Meehan Sharon,Megy Karyn,Mehta Sarju,Michaelides Michel,Millar Carolyn M.,Moledina Shahin,Moore Anthony,Morrell Nicholas,Mumford Andrew,Murng Sai,Murphy Elaine,Nejentsev Sergey,Noorani Sadia,Nurden Paquita,Oksenhendler Eric,Ouwehand Willem H.,Papadia Sofia,Park Soo-Mi,Parker Alasdair,Pasi John,Patch Chris,Paterson Joan,Payne Jeanette,Peacock Andrew,Peerlinck Kathelijne,Penkett Christopher J.,Pepke-Zaba Joanna,Perry David J.,Pollock Val,Polwarth Gary,Ponsford Mark,Qasim Waseem,Quinti Isabella,Rankin Stuart,Rankin Julia,Raymond F. Lucy,Rehnstrom Karola,Reid Evan,Rhodes Christopher J.,Richards Michael,Richardson Sylvia,Richter Alex,Roberts Irene,Rondina Matthew,Rosser Elisabeth,Roughley Catherine,Rue-Albrecht Kevin,Samarghitean Crina,Sanchis-Juan Alba,Sandford Richard,Santra Saikat,Sargur Ravishankar,Savic Sinisa,Schulman Sol,Schulze Harald,Scott Richard,Scully Marie,Seneviratne Suranjith,Sewell Carrock,Shamardina Olga,Shipley Debbie,Simeoni Ilenia,Sivapalaratnam Suthesh,Smith Kenneth,Sohal Aman,Southgate Laura,Staines Simon,Staples Emily,Stauss Hans,Stein Penelope,Stephens Jonathan,Stirrups Kathleen,Stock Sophie,Suntharalingam Jay,Tait R. Campbell,Talks Kate,Tan Yvonne,Thachil Jecko,Thaventhiran James,Thomas Ellen,Thomas Moira,Thompson Dorothy,Thrasher Adrian,Tischkowitz Marc,Titterton Catherine,Toh Cheng-Hock,Toshner Mark,Treacy Carmen,Trembath Richard,Tuna Salih,Turek Wojciech,Turro Ernest,Van Geet Chris,Veltman Marijke,Vogt Julie,von Ziegenweldt Julie,Vonk Noordegraaf Anton,Wakeling Emma,Wanjiku Ivy,Warner Timothy Q.,Wassmer Evangeline,Watkins Hugh,Webster Andrew,Welch Steve,Westbury Sarah,Wharton John,Whitehorn Deborah,Wilkins Martin,Willcocks Lisa,Williamson Catherine,Woods Geoffrey,Wort John,Yeatman Nigel,Yong Patrick,Young Tim,Yu Ping

Funder

Wellcome Trust

Great Ormond Street Children's Hospital Charity

Rosetrees Trust

Great Ormond Street Hospital Children's Charity

Great Ormond Street Hospital

National Institute for Health Research

Cambridge Biomedical Research Centre

NIHR Bioresource for Rare Diseases

Health Innovation Challenge Fund

Department of Health

Wellcome Trust Sanger Institute

UK Department of Health

NIHR

Biomedical Research Centre

NIHR Great Ormond Street Hospital Biomedical Research Centre

NIHR Cambridge Biomedical Research Centre

NHS

Clinical Academic Reserve

National Health and Medical Research Council of Australia

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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