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

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; 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; Holder, Susan; Hobson, Emma; Holden, Simon; Holder, Muriel; 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; 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; Raymond, Lucy; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; 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; 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; Flicek, Paul; Flyod, James; Foley, A. Reghan; Franklin, Christopher S.; Futema, Marta; Gallagher, Louise; Geihs, Matthias; Geschwind, Daniel; Griffin, Heather; Guo, Xueqin; Guo, Xiaosen; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey; Holmans, Peter; Howie, Bryan; Huang, Liren; Hubbard, Tim; Humphries, Steve 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.; 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; 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; 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; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Carmichael, Jenny; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; 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.; 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; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; 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; 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; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; James, Roger; Jolles, Stephen; 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; 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; 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; Parker, Alasdair; Pasi, John; Patch, Chris; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Rankin, Stuart; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; 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; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wanjiku, Ivy; Warner, Timothy Q.; 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

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Dylan H. de Vries
Gorman et al., 2019

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Cell Press, American Journal of Human Genetics, 5(104), p. 948-956

DOI: 10.1016/j.ajhg.2019.03.005

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@article{Gorman2019,
  author = {Gorman, Kathleen M. and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren J. and Bryant, Emily and Reich, Adi and Schneider, Amy L. and Pressler, Ronit M. and Simpson, Michael A. and Debelle, Geoff D. and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R. and King, Mary D. and Cross, J. Helen and Poduri, Annapurna and Mefford, Heather C. and Scheffer, Ingrid E. and Haack, Tobias B. and McCullagh, Gary and Millichap, John J. and Carvill, Gemma L. and Clayton-Smith, Jill and Maher, Eamonn R. and Raymond, F. Lucy and Kurian, Manju A. and McRae, Jeremy F. and Clayton, Stephen and Fitzgerald, Tomas W. and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M. and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D. and King, Daniel and Krishnappa, Netravathi and Mason, Laura E. and Singh, Tarjinder and Tivey, Adrian R. and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J. and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N. and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and de Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and Gibbons, Richard and Gill, Harinder and Goodship, Judith and Goudie, David and Gray, Emma and Green, Andrew and Greene, Philip and Greenhalgh, Lynn and Gribble, Susan and Harrison, Rachel and Harrison, Lucy and Harrison, Victoria and Hawkins, Rose and He, Liu and Hellens, Stephen and Henderson, Alex and Hewitt, Sarah and Hildyard, Lucy and Holder, Susan and Hobson, Emma and Holden, Simon and Holder, Muriel and Hollingsworth, Georgina and Homfray, Tessa and Humphreys, Mervyn and Hurst, Jane and Hutton, Ben and Ingram, Stuart and Irving, Melita and Islam, Lily and Jackson, Andrew and Jarvis, Joanna and Jenkins, Lucy and Johnson, Diana and Jones, Elizabeth and Josifova, Dragana and Joss, Shelagh and Kaemba, Beckie and Kazembe, Sandra and Kelsell, Rosemary and Kerr, Bronwyn and Kingston, Helen and Kini, Usha and Kinning, Esther and Kirby, Gail and Kirk, Claire and Kivuva, Emma and Kraus, Alison and Kumar, Dhavendra and Kumar, V. K. Ajith and Lachlan, Katherine and Lam, Wayne and Lampe, Anne and Langman, Caroline and Lees, Melissa and Lim, Derek and Longman, Cheryl and Lowther, Gordon and Lynch, Sally A. and Magee, Alex and Maher, Eddy and Male, Alison and Mansour, Sahar and Marks, Karen and Martin, Katherine and Maye, Una and McCann, Emma and McConnell, Vivienne and McEntagart, Meriel and McGowan, Ruth and McKay, Kirsten and McKee, Shane and McMullan, Dominic J. and McNerlan, Susan and McWilliam, Catherine and Mehta, Sarju and Metcalfe, Kay and Middleton, Anna and Miedzybrodzka, Zosia and Miles, Emma and Mohammed, Shehla and Montgomery, Tara and Moore, David and Morgan, Sian and Mugalaasi, Hood and Murday, Victoria and Murphy, Helen and Naik, Swati and Nemeth, Andrea and Nevitt, Louise and Newbury-Ecob, Ruth and Norman, Andrew and O’Shea, Rosie and Ogilvie, Caroline and Ong, Kai-Ren and Park, Soo-Mi and Parker, Michael J. and Patel, Chirag and Paterson, Joan and Payne, Stewart and Perrett, Daniel and Phipps, Julie and Pilz, Daniela T. and Pollard, Martin and Pottinger, Caroline and Poulton, Joanna and Pratt, Norman and Prescott, Katrina and Price, Sue and Pridham, Abigail and Procter, Annie and Purnell, Hellen and Quarrell, Oliver and Raymond, Lucy and Ragge, Nicola and Rahbari, Raheleh and Randall, Josh and Rankin, Julia and Rice, Debbie and Robert, Leema and Roberts, Eileen and Roberts, Jonathan and Roberts, Paul and Roberts, Gillian and Ross, Alison and Rosser, Elisabeth and Saggar, Anand and Samant, Shalaka and Sampson, Julian and Sandford, Richard and Sarkar, Ajoy and Schweiger, Susann and Scott, Richard and Scurr, Ingrid and Selby, Ann and Seller, Anneke and Sequeira, Cheryl and Shannon, Nora and Sharif, Saba and Shaw-Smith, Charles and Shearing, Emma and Shears, Debbie and Sheridan, Eamonn and Simonic, Ingrid and Singzon, Roldan and Skitt, Zara and Smith, Audrey and Smith, Kath and Smithson, Sarah and Sneddon, Linda and Splitt, Miranda and Squires, Miranda and Stewart, Fiona and Stewart, Helen and Straub, Volker and Suri, Mohnish and Sutton, Vivienne and Swaminathan, Ganesh Jawahar and Sweeney, Elizabeth and Tatton-Brown, Kate and Taylor, Cat and Taylor, Rohan and Tein, Mark and Temple, I. Karen and Thomson, Jenny and Tischkowitz, Marc and Tomkins, Susan and Torokwa, Audrey and Treacy, Becky and Turner, Claire and Turnpenny, Peter and Tysoe, Carolyn and Vandersteen, Anthony and Varghese, Vinod and Vasudevan, Pradeep and Vijayarangakannan, Parthiban and Vogt, Julie and Wakeling, Emma and Wallwark, Sarah and Waters, Jonathon and Weber, Astrid and Wellesley, Diana and Whiteford, Margo and Widaa, Sara and Wilcox, Sarah and Wilkinson, Emily and Williams, Denise and Williams, Nicola and Wilson, Louise and Woods, Geoff and Wragg, Christopher and Wright, Michael and Yates, Laura and Yau, Michael and Nellåker, Chris and Parker, Michael and Firth, Helen V. and Wright, Caroline F. and FitzPatrick, David R. and Barrett, Jeffrey C. and Hurles, Matthew E. and Al Turki, Saeed and Anderson, Carl and Anney, Richard and Antony, Dinu and Artigas, Maria Soler and Ayub, Muhammad and Balasubramaniam, Senduran and Barroso, Inês and Beales, Phil and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Chatterjee, Krishna and Chen, Lu and Ciampi, Antonio and Cirak, Sebhattin and Clapham, Peter and Clement, Gail and Coates, Guy and Collier, David and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Day-Williams, Aaron and Day, Ian N. M. and Down, Thomas and Du, Yuanping and Dunham, Ian and Edkins, Sarah and Ellis, Peter and Evans, David and Faroogi, Sadaf and Fatemifar, Ghazaleh and Flicek, Paul and Flyod, James and Foley, A. Reghan and Franklin, Christopher S. and Futema, Marta and Gallagher, Louise and Geihs, Matthias and Geschwind, Daniel and Griffin, Heather and Guo, Xueqin and Guo, Xiaosen and Gurling, Hugh and Hart, Deborah and Hendricks, Audrey and Holmans, Peter and Howie, Bryan and Huang, Liren and Hubbard, Tim and Humphries, Steve E. and Hysi, Pirro and Jackson, David K. and Jamshidi, Yalda and Jing, Tian and Joyce, Chris and Kaye, Jane and Keane, Thomas and Keogh, Julia and Kemp, John and Kennedy, Karen and Kolb-Kokocinski, Anja and Lachance, Genevieve and Langford, Cordelia and Lawson, Daniel and Lee, Irene and Lek, Monkol and Liang, Jieqin and Lin, Hong and Li, Rui and Li, Yingrui and Liu, Ryan and Lönnqvist, Jouko and Lopes, Margarida and Iotchkova, Valentina and MacArthur, Daniel and Marchini, Jonathan and Maslen, John and Massimo, Mangino and Mathieson, Iain and Marenne, Gaëlle and McGuffin, Peter and McIntosh, Andrew and McKechanie, Andrew G. and McQuillin, Andrew and Metrustry, Sarah and Mitchison, Hannah and Moayyeri, Alireza and Morris, James and Muntoni, Francesco and Northstone, Kate and O'Donnovan, Michael and Onoufriadis, Alexandros and O'Rahilly, Stephen and Oualkacha, Karim and Owen, Michael J. and Palotie, Aarno and Panoutsopoulou, Kalliope and Parker, Victoria and Parr, Jeremy R. and Paternoster, Lavinia and Paunio, Tiina and Payne, Felicity and Pietilainen, Olli and Plagnol, Vincent and Quaye, Lydia and Quail, Michael A. and Rehnström, Karola and Ring, Susan and Ritchie, Graham R. S. and Roberts, Nicola and Savage, David B. and Scambler, Peter and Schiffels, Stephen and Schmidts, Miriam and Schoenmakers, Nadia and Semple, Robert K. and Serra, Eva and Sharp, Sally I. and Shin, So-Youn and Skuse, David and Small, Kerrin and Southam, Lorraine and Spasic-Boskovic, Olivera and St Clair, David and Stalker, Jim and Stevens, Elizabeth and St Pourcian, Beate and Sun, Jianping and Suvisaari, Jaana and Tachmazidou, Ionna and Tobin, Martin D. and Valdes, Ana and Van Kogelenberg, Margriet and Visscher, Peter M. and Wain, Louise V. and Walters, James T. R. and Wang, Guangbiao and Wang, Jun and Wang, Yu and Ward, Kirsten and Wheeler, Elanor and Whyte, Tamieka and Williams, Hywel and Williamson, Kathleen A. and Wilson, Crispian and Wong, Kim and Xu, ChangJiang and Yang, Jian and Zhang, Fend and Zhang, Pingbo and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allen, Louise and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arno, Gavin and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K. and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R. and Brady, Angie and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Carmichael, Jenny and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Chitre, Manali and Church, Colin and Clement, Emma and Clements-Brod, Naomi and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V. V. and Devlin, Lisa and Dewhurst, Eleanor and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N. and Erwood, Marie and Everington, Tamara and Favier, Remi and Firth, Helen and Fletcher, Debra and Fox, James C. and Frary, Amy and Freson, Kathleen and Furie, Bruce and Furnell, Abigail and Gale, Daniel and Gardham, Alice and Gattens, Michael and Ghataorhe, Pavandeep K. and Ghurye, Rohit and Gibbs, Simon and Gilmour, Kimberley and Gissen, Paul and Goddard, Sarah and Gomez, Keith and Gordins, Pavel and Gräf, Stefan and Greene, Daniel and Greenhalgh, Alan and Greinacher, Andreas and Grigoriadou, Sofia and Hackett, Scott and Hadinnapola, Charaka and Hague, Rosie and Haimel, Matthias and Halmagyi, Csaba and Hammerton, Tracey and Hart, Daniel and Hayman, Grant and Heemskerk, Johan W. M. and Henderson, Robert and Hensiek, Anke and Henskens, Yvonne and Herwadkar, Archana and Hu, Fengyuan and Huissoon, Aarnoud and Humbert, Marc and James, Roger and Jolles, Stephen and Kazmi, Rashid and Keeling, David and Kelleher, Peter and Kelly, Anne M. and Kennedy, Fiona and Kiely, David and Kingston, Nathalie and Koziell, Ania and Krishnakumar, Deepa and Kuijpers, Taco W. and Kumararatne, Dinakantha and Kurian, Manju and Laffan, Michael A. and Lambert, Michele P. and Allen, Hana Lango and Lawrie, Allan and Lear, Sara and Lentaigne, Claire and Liesner, Ri and Linger, Rachel and Longhurst, Hilary and Lorenzo, Lorena and Machado, Rajiv and Mackenzie, Rob and MacLaren, Robert and Maher, Eamonn and Maimaris, Jesmeen and Mangles, Sarah and Manson, Ania and Mapeta, Rutendo and Markus, Hugh S. and Martin, Jennifer and Masati, Larahmie and Mathias, Mary and Matser, Vera and Maw, Anna and McDermott, Elizabeth and McJannet, Coleen and Meacham, Stuart and Meehan, Sharon and Megy, Karyn and Michaelides, Michel and Millar, Carolyn M. and Moledina, Shahin and Moore, Anthony and Morrell, Nicholas and Mumford, Andrew and Murng, Sai and Murphy, Elaine and Nejentsev, Sergey and Noorani, Sadia and Nurden, Paquita and Oksenhendler, Eric and Ouwehand, Willem H. and Papadia, Sofia and Parker, Alasdair and Pasi, John and Patch, Chris and Payne, Jeanette and Peacock, Andrew and Peerlinck, Kathelijne and Penkett, Christopher J. and Pepke-Zaba, Joanna and Perry, David J. and Pollock, Val and Polwarth, Gary and Rankin, Stuart and Ponsford, Mark and Qasim, Waseem and Quinti, Isabella and Rehnstrom, Karola and Reid, Evan and Rhodes, Christopher J. and Richards, Michael and Richardson, Sylvia and Richter, Alex and Roberts, Irene and Rondina, Matthew and Roughley, Catherine and Rue-Albrecht, Kevin and Samarghitean, Crina and Santra, Saikat and Sargur, Ravishankar and Savic, Sinisa and Schulman, Sol and Schulze, Harald and Scully, Marie and Seneviratne, Suranjith and Sewell, Carrock and Shamardina, Olga and Shipley, Debbie and Simeoni, Ilenia and Sivapalaratnam, Suthesh and Smith, Kenneth and Sohal, Aman and Southgate, Laura and Staines, Simon and Staples, Emily and Stauss, Hans and Stein, Penelope and Stephens, Jonathan and Stirrups, Kathleen and Stock, Sophie and Suntharalingam, Jay and Tait, R. Campbell and Talks, Kate and Tan, Yvonne and Thachil, Jecko and Thaventhiran, James and Thomas, Ellen and Thomas, Moira and Thompson, Dorothy and Thrasher, Adrian and Titterton, Catherine and Toh, Cheng-Hock and Toshner, Mark and Treacy, Carmen and Trembath, Richard and Tuna, Salih and Turek, Wojciech and Turro, Ernest and Van Geet, Chris and Veltman, Marijke and von Ziegenweldt, Julie and Vonk Noordegraaf, Anton and Wanjiku, Ivy and Warner, Timothy Q. and Watkins, Hugh and Webster, Andrew and Welch, Steve and Westbury, Sarah and Wharton, John and Whitehorn, Deborah and Wilkins, Martin and Willcocks, Lisa and Williamson, Catherine and Woods, Geoffrey and Wort, John and Yeatman, Nigel and Yong, Patrick and Young, Tim and Yu, Ping},
  doi = {10.1016/j.ajhg.2019.03.005},
  journal = {American Journal of Human Genetics},
  month = {may},
  pages = {948-956},
  title = {Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia},
  url = {https://oadoi.org/10.1016/j.ajhg.2019.03.005},
  volume = {104},
  year = {2019}
}

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