SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Synd...

por Stenhouse, Susan A.R., Ellis, Rachael, Zuberi, Sameer
Publicado 2013

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

por Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz
Publicado en Eur J Hum Genet (2019)

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

por Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.
Publicado 2011

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

por Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Publicado en EBioMedicine (2015)