Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing

Autor: Spyrou, James, Aung, Khaing Phyu, Vanyai, Hannah, Leventer, Richard J., Maljevic, Snezana, Lockhart, Paul J., Howell, Katherine B., Reid, Christopher A.

Publikováno v: In Neurobiology of Disease 15 October 2024 201

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Autor: D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole S Y, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann ^†, Costain, Gregory ^†, Poduri, Annapurna ^†, Howell, Katherine B ^†, McTague, Amy ^{†, *}

Publikováno v: In The Lancet Neurology September 2023 22(9):812-825

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Parental health spillover effects of paediatric rare genetic conditions

Autor: Wu, You, Al-Janabi, Hareth, Mallett, Andrew, Quinlan, Catherine, Scheffer, Ingrid E., Howell, Katherine B., Christodoulou, John, Leventer, Richard J., Lockhart, Paul J., Stark, Zornitza, Boughtwood, Tiffany, Goranitis, Ilias

Publikováno v: Quality of Life Research, 2020 Sep 01. 29(9), 2445-2454.

Externí odkaz: https://www.jstor.org/stable/48733640

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

Autor: Berecki, Géza¹ (AUTHOR) geza.berecki@florey.edu.au, Howell, Katherine B.^1,2,3,4 (AUTHOR), Heighway, Jacqueline¹ (AUTHOR), Olivier, Nelson⁵ (AUTHOR), Rodda, Jill⁴ (AUTHOR), Overmars, Isabella⁴ (AUTHOR), Vlaskamp, Danique R. M.⁶ (AUTHOR), Ware, Tyson L.⁷ (AUTHOR), Ardern-Holmes, Simone⁸ (AUTHOR), Lesca, Gaetan⁹ (AUTHOR), Alber, Michael¹⁰ (AUTHOR), Veggiotti, Pierangelo¹¹ (AUTHOR), Scheffer, Ingrid E.^2,3,4,12 (AUTHOR), Berkovic, Samuel F.¹² (AUTHOR), Wolff, Markus¹³ (AUTHOR), Petrou, Steven^1,5,14 (AUTHOR) steven.petrou@florey.edu.au

Publikováno v: Communications Biology. 5/30/2022, Vol. 5 Issue 1, p1-13. 13p.