Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals
This study broadens the spectrum of tubulinopathies to include mild imaging phenotypes with attenuated clinical features in children and adults. Absence of major cortical malformations, inherited mutations, and specific genetic variants may serve as favorable prognostic markers. These findings have important implications for genetic counseling, particularly in prenatal cases.
Authors
- Valentine Floret
- Emmanuelle Lacaze (ORCID: https://orcid.org/0000-0002-8380-8288)
- Irene Valenzuela (ORCID: https://orcid.org/0000-0003-2350-6058)
- Diana Rodriguez (ORCID: https://orcid.org/0009-0005-8316-9016)
- Cathérine Garel (ORCID: https://orcid.org/0000-0003-1752-484X)
- Madeleine Harion (ORCID: https://orcid.org/0000-0003-0488-0044)
- Michiel Vanneste (ORCID: https://orcid.org/0000-0003-0222-5740)
- Anna Maria Pinto (ORCID: https://orcid.org/0000-0001-6259-6901)
- Éléonore Blondiaux (ORCID: https://orcid.org/0000-0002-2594-5428)
- Liesbeth De Waele (ORCID: https://orcid.org/0000-0001-7126-575X)
- Thierry Billette de Villemeur
- Audrey Riquet (ORCID: https://orcid.org/0009-0000-4291-604X)
- Alessandra Renieri (ORCID: https://orcid.org/0000-0002-0846-9220)
- Lydie Bürglen (ORCID: https://orcid.org/0000-0002-1119-6809)
- Lucie Guilbaud (ORCID: https://orcid.org/0000-0003-4695-9519)
- Maria K. Haanpää (ORCID: https://orcid.org/0000-0003-3731-863X)
- Cyril Mignot (ORCID: https://orcid.org/0000-0002-3462-3463)
- Stéphanie Valence (ORCID: https://orcid.org/0000-0003-4530-4537)
- Koen Devriendt
- Mathieu Milh (ORCID: https://orcid.org/0000-0002-2454-8543)
- Delphine Héron
- Robin Cloarec
- Alexandra Afenjar
- Jean‐Marie Jouannic (ORCID: https://orcid.org/0000-0002-7890-3790)
- Vincent Desportes
- Meghane Durizot
Institutions
- Université Claude Bernard Lyon 1 (FR)
- University of Siena (IT)
- Hebron University (PS)
- Université Catholique de Lille (FR)
- Turku University Hospital (FI)
- Centre Hospitalier Universitaire de Lille (FR)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Ospedale Santa Maria alle Scotte (IT)
- Hospices Civils de Lyon (FR)
- Hôpital Roger Salengro (FR)
- Pitié-Salpêtrière Hospital (FR)
- Vall d'Hebron Hospital Universitari (ES)
- Azienda Ospedaliera Universitaria Senese (IT)
- Groupe Hospitalier de l'Institut Catholique de Lille (FR)
- Hôpital de la Timone (FR)
- Hôpital Saint-Vincent-de-Paul (FR)
- HCL Technologies (India) (IN)
- KU Leuven (BE)
Publication Details
- Journal
- Pediatric Neurology
- Published
- 2025-06-11
- DOI
- https://doi.org/10.1016/j.pediatrneurol.2025.06.003
- Citations
- 3
- Primary Topic
- Microtubule and mitosis dynamics
- Type
- article
- Field-Weighted Citation Impact
- 3.45