Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Autor: Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo

Publikováno v: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

TUBA1A Mutation-Associated Lissencephaly: Case Report and Review of the Literature

Autor: Sohal, Aman P.S., Montgomery, Tara, Mitra, Dipayan, Ramesh, Venkateswaran

Publikováno v: In Pediatric Neurology 2012 46(2):127-131

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent‐onset POLG‐related mitochondrial disease

Autor: Ng, Yi Shiau, van Ruiten, Henriette, Lai, H. Ming, Scott, Rebecca, Ramesh, Venkateswaran, Horridge, Karen, Taylor, Robert W., Turnbull, Doug M., Gorman, Gráinne S., McFarland, Robert, Baker, Mark R.

Publikováno v: Epilepsia Open

Summary Focal status epilepticus in POLG‐related mitochondrial disease is highly refractory to pharmacological agents, including general anesthesia. We report the challenges in managing a previously healthy teenager who presented with de novo epile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::73e6d88793fb171a8ab44c169ee5c60a
http://europepmc.org/articles/PMC5839316

Mortality in Dravet syndrome

Autor: Cooper, Monica S., Mcintosh, Anne, Crompton, Douglas E., McMahon, Jacinta M., Schneider, Amy, Farrell, Kevin, Ganesan, Vijeya, Gill, Deepak, Kivity, Sara, Lerman-Sagie, Tally, McLellan, Ailsa, Pelekanos, James, Ramesh, Venkateswaran, Sadleir, Lynette, Wirrell, Elaine, Scheffer, Ingrid E.

Publikováno v: In Epilepsy Research December 2016 128:43-47

Exome sequencing in undiagnosed inherited and sporadic ataxias

Autor: Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F

Publikováno v: Brain

Inherited ataxias are difficult to diagnose genetically. Pyle et al. use whole-exome sequencing to provide a likely molecular diagnosis in 14 of 22 families with ataxia. The approach reveals de novo mutations, broadens the phenotype of other disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b04fe205521d68da5652cc7f7b98e3
https://www.repository.cam.ac.uk/handle/1810/290350