Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome.
Frontiers In Cellular Neuroscience
Mavashov, Anat A; Brusel, Marina M; Liu, Jiaxing J; Woytowicz, Victoria V; Bae, Haneui H; Chen, Ying-Hsin YH; Dani, Vardhan S VS; Cardenal-Muñoz, Elena E; Spinosa, Vittoria V; Aibar, José Ángel JÁ; Rubinstein, Moran M
Animal Models of Drug-Resistant Epilepsy as Tools for Deciphering the Cellular and Molecular Mechanisms of Pharmacoresistance and Discovering More Effective Treatments.
Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome.
Plos One
Anderson, Lyndsey L LL; Bahceci, Dilara A DA; Hawkins, Nicole A NA; Everett-Morgan, Declan D; Banister, Samuel D SD; Kearney, Jennifer A JA; Arnold, Jonathon C JC
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations.
Molecular Therapy. Nucleic Acids
Mora-Jimenez, Lucia L; Valencia, Miguel M; Sanchez-Carpintero, Rocio R; Tønnesen, Jan J; Fadila, Saja S; Rubinstein, Moran M; Gonzalez-Aparicio, Manuela M; Bunuales, Maria M; Fernandez-Pierola, Eva E; Nicolas, Maria Jesus MJ; Puerta, Elena E; Miguelez, Cristina C; Minguez, Paula Gimenez PG; Lumbreras, Sara S; Gonzalez-Aseguinolaza, Gloria G; Ricobaraza, Ana A; Hernandez-Alcoceba, Ruben R
Development of an antiseizure drug screening platform for Dravet syndrome at the NINDS contract site for the Epilepsy Therapy Screening Program.
Epilepsia
Pernici, Chelsea D CD; Mensah, Jeffrey A JA; Dahle, E Jill EJ; Johnson, Kristina J KJ; Handy, Laura L; Buxton, Lauren L; Smith, Misty D MD; West, Peter J PJ; Metcalf, Cameron S CS; Wilcox, Karen S KS
Neuropathological Characterization of a Dravet Syndrome Knock-In Mouse Model Useful for Investigating Cannabinoid Treatments.
Frontiers In Molecular Neuroscience
Satta, Valentina V; Alonso, Cristina C; Díez, Paula P; Martín-Suárez, Soraya S; Rubio, Marta M; Encinas, Juan M JM; Fernández-Ruiz, Javier J; Sagredo, Onintza O
Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation.
Scientific Reports
Ricobaraza, Ana A; Mora-Jimenez, Lucia L; Puerta, Elena E; Sanchez-Carpintero, Rocio R; Mingorance, Ana A; Artieda, Julio J; Nicolas, Maria Jesus MJ; Besne, Guillermo G; Bunuales, Maria M; Gonzalez-Aparicio, Manuela M; Sola-Sevilla, Noemi N; Valencia, Miguel M; Hernandez-Alcoceba, Ruben R
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
European Journal Of Human Genetics : Ejhg
Papuc, Sorina M SM; Abela, Lucia L; Steindl, Katharina K; Begemann, Anaïs A; Simmons, Thomas L TL; Schmitt, Bernhard B; Zweier, Markus M; Oneda, Beatrice B; Socher, Eileen E; Crowther, Lisa M LM; Wohlrab, Gabriele G; Gogoll, Laura L; Poms, Martin M; Seiler, Michelle M; Papik, Michael M; Baldinger, Rosa R; Baumer, Alessandra A; Asadollahi, Reza R; Kroell-Seger, Judith J; Schmid, Regula R; Iff, Tobias T; Schmitt-Mechelke, Thomas T; Otten, Karoline K; Hackenberg, Annette A; Addor, Marie-Claude MC; Klein, Andrea A; Azzarello-Burri, Silvia S; Sticht, Heinrich H; Joset, Pascal P; Plecko, Barbara B; Rauch, Anita A
Publication Date: 2019-03
Variant appearance in text: SCN1A: 5348C>T; Ala1783Val
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: SCN1A: 5348C>T; Ala1783Val
The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
Epilepsia
Klassen, Tara L TL; Bomben, Valerie C VC; Patel, Ankita A; Drabek, Janice J; Chen, Tim T TT; Gu, Wenli W; Zhang, Feng F; Chapman, Kevin K; Lupski, James R JR; Noebels, Jeffrey L JL; Goldman, A M AM