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

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA

Open source

DOI: 10.1016/j.ajhg.2019.03.005
Published: 2019 May 2
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2019.03.005,
  title = {Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.},
  author = {Gorman KM and Meyer E and Grozeva D and Spinelli E and McTague A and Sanchis-Juan A and Carss KJ and Bryant E and Reich A and Schneider AL and Pressler RM and Simpson MA and Debelle GD and Wassmer E and Morton J and Sieciechowicz D and Jan-Kamsteeg E and Paciorkowski AR and King MD and Cross JH and Poduri A and Mefford HC and Scheffer IE and Haack TB and McCullagh G and Deciphering Developmental Disorders Study and UK10K Consortium and NIHR BioResource and Millichap JJ and Carvill GL and Clayton-Smith J and Maher ER and Raymond FL and Kurian MA},
  year = {2019},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2019.03.005},
  url = {https://doi.org/10.1016/j.ajhg.2019.03.005}
}

RIS

TY  - JOUR
TI  - Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
AU  - Gorman KM
AU  - Meyer E
AU  - Grozeva D
AU  - Spinelli E
AU  - McTague A
AU  - Sanchis-Juan A
AU  - Carss KJ
AU  - Bryant E
AU  - Reich A
AU  - Schneider AL
AU  - Pressler RM
AU  - Simpson MA
AU  - Debelle GD
AU  - Wassmer E
AU  - Morton J
AU  - Sieciechowicz D
AU  - Jan-Kamsteeg E
AU  - Paciorkowski AR
AU  - King MD
AU  - Cross JH
AU  - Poduri A
AU  - Mefford HC
AU  - Scheffer IE
AU  - Haack TB
AU  - McCullagh G
AU  - Deciphering Developmental Disorders Study
AU  - UK10K Consortium
AU  - NIHR BioResource
AU  - Millichap JJ
AU  - Carvill GL
AU  - Clayton-Smith J
AU  - Maher ER
AU  - Raymond FL
AU  - Kurian MA
PY  - 2019
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2019.03.005
UR  - https://doi.org/10.1016/j.ajhg.2019.03.005
ER  -

APA

KM, G., E, M., D, G., E, S., A, M., A, S., KJ, C., E, B., A, R., AL, S., RM, P., MA, S., GD, D., E, W., J, M., D, S., E, J., AR, P., MD, K., JH, C., A, P., HC, M., IE, S., TB, H., G, M., Study, D. D. D., Consortium, U., BioResource, N., JJ, M., GL, C., J, C., ER, M., FL, R., & MA, K. (2019). Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2019.03.005

Source records

pubmed · retrieved 2026-09-26T07:08:08.434Z
europe-pmc · retrieved 2026-09-26T07:08:08.442Z