Protocol for EpiCom : a phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Source
PLoS ONE - ISSN 1932-6203-20:6 (2025) p. 1-17
Author(s)
    Agnies M. van Eeghen, Elizabeth A. Thiele, Sam Amin, Debopam Samanta, Anna Jansen, Joanne Stevens, Lisa Moore-Ramdin, Petrus J. de Vries

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ)

Source
Orphanet journal of rare diseases - ISSN 1750-1172-20:1 (2025) p. 1-17
Author(s)
    Nola Chambers, Tosca-Marie Heunis, Sugnet Gardner-Lubbe, Jamie K. Capal, Stacey Bissell, Anna W. Byars, Sebastian Cukier, Peter E. Davis, Jennifer Flinn, Tanjala T. Gipson, J. Chris Kingswood, Aubrey J. Kumm, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M. van Eeghen, Robert Waltereit, Darcy A. Krueger, Mustafa Sahin, Liesbeth De Waele, Anna Jansen, Petrus J. de Vries

mTOR pathway diseases : challenges and opportunities from bench to bedside and the mTOR node

Source
Orphanet journal of rare diseases - ISSN 1750-1172-20:1 (2025) p. 1-33
Author(s)
    Laura Mantoan Ritter, Nicholas M.P. Annear, Emma L. Baple, Leila Y. Ben-Chaabane, Istvan Bodi, Lauren Brosson, Jill E. Cadwgan, Bryn Coslett, Andrew H. Crosby, D. Mark Davies, Nicola Daykin, Stefanie Dedeurwaerdere, Christina Duehring Fenger, Elaine A. Dunlop, Frances V. Elmslie, Marie Girodengo, Sophie Hambleton, Anna Jansen, Simon R. Johnson, Kelly C. Kearley, John C. Kingswood, Liisi Laaniste, Katherine Lachlan, Andrew Latchford, Ralitsa R. Madsen, Sahar Mansour, Simeon R. Mihaylov, Louwai Muhammed, Claire Oliver, Tom Pepper, Lettie E. Rawlins, Ina Schim van der Loeff, Ata Siddiqui, Pooja Takhar, Katrina Tatton-Brown, Andrew R. Tee, Priyanka Tibarewal, Charlotte Tye, Sila K. Ultanir, Bart Vanhaesebroeck, Benjamin Zare, Deb K. Pal, Joseph M. Bateman

Paediatric neurology in Ukraine : a call for help

Source
The lancet neurology - ISSN 1474-4422-24:4 (2025) p. 287-288
Author(s)
    Alla Nechai, Oxana Nazar, Kevin Rostasy, Sameer M. Zuberi, Dana Craiu, Anna Jansen, Coriene E. Catsman-Berrevoets