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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1357, doi. 10.1093/brain/awac330
By:
- Mattison, Kari A;
- Tossing, Gilles;
- Mulroe, Fred;
- Simmons, Callum;
- Butler, Kameryn M;
- Schreiber, Alison;
- Alsadah, Adnan;
- Neilson, Derek E;
- Naess, Karin;
- Wedell, Anna;
- Wredenberg, Anna;
- Sorlin, Arthur;
- McCann, Emma;
- Burghel, George J;
- Menendez, Beatriz;
- Hoganson, George E;
- Botto, Lorenzo D;
- Filloux, Francis M;
- Aledo-Serrano, Ángel;
- Gil-Nagel, Antonio
Publication type:
Article
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Published in:
2018
By:
- Butler, Kameryn M;
- Moody, Olivia A;
- Schuler, Elisabeth;
- Coryell, Jason;
- Alexander, John J;
- Jenkins, Andrew;
- Escayg, Andrew
Publication type:
journal article
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1917
By:
- Fang, Xiaolan;
- Butler, Kameryn M.;
- Abidi, Fatima;
- Gass, Jennifer;
- Beisang, Arthur;
- Feyma, Timothy;
- Ryther, Robin C.;
- Standridge, Shannon;
- Heydemann, Peter;
- Jones, Mary;
- Haas, Richard;
- Lieberman, David N;
- Marsh, Eric D.;
- Benke, Tim A.;
- Skinner, Steve;
- Neul, Jeffrey L.;
- Percy, Alan K.;
- Friez, Michael J.;
- Caylor, Raymond C.
Publication type:
Article
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants.
Published in:
Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6308283
By:
- Butler, Kameryn M.;
- Holt, Philip J.;
- Milla, Sarah S.;
- da Silva, Cristina;
- Alexander, John J.;
- Escayg, Andrew
Publication type:
Article
A SOX3 duplication and lumbosacral spina bifida in three generations.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1572, doi. 10.1002/ajmg.a.62668
By:
- Butler, Kameryn M.;
- Fee, Timothy;
- DuPont, Barbara R.;
- Dean, Jane H.;
- Stevenson, Roger E.;
- Lyons, Michael J.
Publication type:
Article
Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Na<sub>v</sub>1.6 sodium channels.
Published in:
Genes, Brain & Behavior, 2020, v. 19, n. 4, p. 1, doi. 10.1111/gbb.12612
By:
- Inglis, George Andrew S.;
- Wong, Jennifer C.;
- Butler, Kameryn M.;
- Thelin, Jacquelyn T.;
- Mistretta, Olivia C.;
- Wu, Xuewen;
- Lin, Xi;
- English, Arthur W.;
- Escayg, Andrew
Publication type:
Article
Pathogenic in-Frame Variants in SCN8A : Expanding the Genetic Landscape of SCN8A- Associated Disease.
Published in:
Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.748415
By:
- Wong, Jennifer C.;
- Butler, Kameryn M.;
- Shapiro, Lindsey;
- Thelin, Jacquelyn T.;
- Mattison, Kari A.;
- Garber, Kathryn B.;
- Goldenberg, Paula C.;
- Kubendran, Shobana;
- Schaefer, G. Bradley;
- Escayg, Andrew
Publication type:
Article
SLC6A1 variants identified in epilepsy patients reduce γ‐aminobutyric acid transport.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 9, p. e135, doi. 10.1111/epi.14531
By:
- Mattison, Kari A.;
- Butler, Kameryn M.;
- Inglis, George Andrew S.;
- Dayan, Oshrat;
- Boussidan, Hanna;
- Bhambhani, Vikas;
- Philbrook, Bryan;
- da Silva, Cristina;
- Alexander, John J.;
- Kanner, Baruch I.;
- Escayg, Andrew
Publication type:
Article
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.
Published in:
Clinical Kidney Journal, 2024, v. 17, n. 8, p. 1, doi. 10.1093/ckj/sfae211
By:
- Bosman, Willem;
- Butler, Kameryn M;
- Chang, Caitlin A;
- Ganapathi, Mythily;
- Guzman, Edwin;
- Latta, Femke;
- Chung, Wendy K;
- Claverie-Martin, Felix;
- Davis, Jessica M;
- Hoenderop, Joost G J;
- Baaij, Jeroen H F de
Publication type:
Article
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Published in:
Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020
By:
- Tenorio‐Castaño, Jair Antonio;
- Arias, Pedro;
- Fernández‐Jaén, Alberto;
- Lay‐Son, Guillermo;
- Bueno‐Lozano, Gloria;
- Bayat, Allan;
- Faivre, Laurence;
- Gallego, Natalia;
- Ramos, Sergio;
- Butler, Kameryn M.;
- Morel, Chantal;
- Hadjiyannakis, Stasia;
- Lespinasse, James;
- Tran‐Mau‐Them, Frederic;
- Santos‐Simarro, Fernando;
- Pinson, Lucile;
- Martínez‐Monseny, Antonio Federico;
- O'Callaghan Cord, María del Mar;
- Álvarez, Sara;
- Stolerman, Elliot S.
Publication type:
Article

Found: 10