Search

Author/Creator Myers, Candace T.

1. A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. (September 2016)

Authors:
Tsai, Meng-Han; Kuo, Pei-Wen; Myers, Candace T.; Li, Shih-Wen; Lin, Wei-Che; Fu, Ting-Ying; Chang, Hsin-Yun; Mefford, Heather C.; Chang, Yao-Chung; Tsai, Jin-Wu
Journal:
European journal of paediatric neurology
Issue:
Volume 20:Number 5(2016:Sep.)
Page Start:
788
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy. (11th May 2018)

Authors:
Howell, Katherine B.; Eggers, Stefanie; Dalziel, Kim; Riseley, Jessica; Mandelstam, Simone; Myers, Candace T.; McMahon, Jacinta M.; Schneider, Amy; Carvill, Gemma L.; Mefford, Heather C.; Scheffer, Ingrid E.; Harvey, A. Simon
Journal:
Epilepsia
Issue:
Volume 59:issue 6(2018)
Page Start:
1177
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A targeted resequencing gene panel for focal epilepsy. (26th April 2016)

Authors:
Hildebrand, Michael S.; Myers, Candace T.; Carvill, Gemma L.; Regan, Brigid M.; Damiano, John A.; Mullen, Saul A.; Newton, Mark R.; Nair, Umesh; Gazina, Elena V.; Milligan, Carol J.; Reid, Christopher A.; Petrou, Steven; Scheffer, Ingrid E.; Berkovic, Samuel F.; Mefford, Heather C.
Journal:
Neurology
Issue:
Volume 86:Number 17(2016)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy. Issue 7 (6th April 2020)

Authors:
Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timoth...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1263
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018)

Authors:
Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ...
Journal:
Epilepsia
Issue:
Volume 59:issue 2(2018)
Page Start:
389
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020)

Authors:
Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine...
Journal:
Epilepsia
Issue:
Volume 61:issue 11(2020)
Page Start:
2461
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. (8th November 2016)

Authors:
Corbett, Mark A.; Bellows, Susannah T.; Li, Melody; Carroll, Renée; Micallef, Silvana; Carvill, Gemma L.; Myers, Candace T.; Howell, Katherine B.; Maljevic, Snezana; Lerche, Holger; Gazina, Elena V.; Mefford, Heather C.; Bahlo, Melanie; Berkovic, Samuel F.; Petrou, Steven; Scheffer, Ingrid E.; Ge...
Journal:
Neurology
Issue:
Volume 87:Number 19(2016)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Epilepsy in KCNH1‐related syndromes. Issue 2 (June 2016)

Authors:
Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D.V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo
Journal:
Epileptic disorders
Issue:
Volume 18:Issue 2(2016:Jun.)
Page Start:
123
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Issue 1 (4th October 2019)

Authors:
Bar, Claire; Barcia, Giulia; Jennesson, Mélanie; Le Guyader, Gwenaël; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; Billette de Villemeur, Thierry; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Hervé; Poisson, ...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
69
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. (6th December 2020)

Authors:
Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arell...
Journal:
Epilepsia
Issue:
Volume 62:issue 1(2021)
Page Start:
e13
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗