Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssens, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
eLife · 2023 · doi:10.7554/elife.81032
OA: gold CC0
🔓 Open OA copy View at publisher
⚙ AI-generated summary by qwen3.7-flash, 2026-10-10 ⓘ

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

My notes (saved in your browser only)

Funding

funders
[{'doi': None, 'name': 'FWO', 'awards': ['G.0D1417N']}, {'doi': None, 'name': 'FWO', 'awards': ['G.084515N']}, {'doi': None, 'name': 'FWO', 'awards': ['G.0A6719N']}, {'doi': None, 'name': 'FWO', 'awards': ['11E782']}, {'doi': '10.13039/100017885', 'name': 'Queen Elisabeth Medical Foundation for Neurosciences', 'awards': []}, {'doi': '10.13039/501100004727', 'name': 'Vlaams Instituut voor Biotechnologie', 'awards': []}, {'doi': None, 'name': 'FWO', 'awards': ['G079623N']}]

Citation neighborhood (sparse)

Too few in-corpus citations on either side for a chart; here are the lists.

Cites (1)

References (41)

Source provenance

crossref
last seen: 2026-10-10T06:25:24.797408+00:00
unpaywall
last seen: 2026-10-09T06:36:44.367587+00:00
License: CC0 · commercial use OK