Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

Autor: Lyu, Hang, Boßelmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar, Juan Dario, Aguilera-Albesa, Sergio, Garcia-Navas Núñez, Deyanira, Linnankivi, Tarja, Gaily, Eija, van Ruiten, Henriette J.A., Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schöls, Ludger, Lerche, Holger, Møller, Rikke S., Liu, Yuanyuan

Publikováno v: In eBioMedicine December 2023 98

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

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Duchenne muscular dystrophy.

Autor: Fox H; Severn Hospice, Shropshire, UK., Millington L, Mahabeer I; Sandwell & West Birmingham Hospital NHS Trust, Midlands, UK., van Ruiten H; The Great North Children's Hospital and The John Walton Muscular Dystrophy Research Centre, Newcastle, UK.

Publikováno v: BMJ (Clinical research ed.) [BMJ] 2020 Jan 23; Vol. 368, pp. l7012. Date of Electronic Publication: 2020 Jan 23.