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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia by 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; Eas is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
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- 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; Eas
- Publisher
- American Society of Human Genetics; Elsevier ; Cell Press; Elsevier BV (ISSN 0002-9297)
- Published
- 2019
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)