Genetic Insights Into Hypothalamic Hamartoma
Our findings reinforce the role of somatic variants in Shh and cilia genes in HH cases while also shedding light on <i>TNK2</i> as a potential novel disease-causing gene. This study emphasizes the increasing importance of brain mosaicism in epilepsy disorders and underscores the critical role of genetic diagnosis derived from resected brain tissue.
Authors
- Homa Adle‐Biassette (ORCID: https://orcid.org/0000-0001-9446-8306)
- Éric Leguern (ORCID: https://orcid.org/0000-0003-0013-9646)
- Georg Dorfmüller
- Sara Baldassari (ORCID: https://orcid.org/0000-0003-4851-2796)
- Mathilde Chipaux (ORCID: https://orcid.org/0000-0002-8454-7374)
- Jean‐Madeleine de Sainte Agathe (ORCID: https://orcid.org/0000-0002-7753-8226)
- Marion Doladilhe (ORCID: https://orcid.org/0009-0000-7502-9850)
- Stéphanie Baulac (ORCID: https://orcid.org/0000-0001-6430-4693)
- Christine Bulteau
- Emmanuel Raffo (ORCID: https://orcid.org/0009-0004-3651-8706)
- Rayann Checri (ORCID: https://orcid.org/0009-0006-9113-6254)
- Lina Sami (ORCID: https://orcid.org/0009-0002-8422-8186)
- Sarah Ferrand-Sorbets
- Sarah Rosenberg (ORCID: https://orcid.org/0009-0008-5783-0159)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut du Cerveau (FR)
- NeuroDiderot (FR)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-09-05
- DOI
- https://doi.org/10.1212/nxg.0000000000200180
- Citations
- 3
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- Agence Nationale de la Recherche
- Fondation pour la Recherche Médicale