Genotype-Phenotype Landscape of <i>NALCN</i> and <i>UNC80</i> -Related Disorders
This study provides an in-depth clinical characterization of <i>NALCN</i>-related and <i>UNC80</i>-related disorders. Distal arthrogryposis, episodic ataxia, and paroxysmal dystonia were diagnosed in patients with CLIFAHDD while failure to thrive, CSA, and epilepsy were associated with LOF variants. We suggest potential genotype-phenotype associations, formulating hypotheses for validation in future studies with larger cohorts.
Authors
- Elena Caron (ORCID: https://orcid.org/0000-0001-8487-006X)
- Klaus Dieterich (ORCID: https://orcid.org/0000-0002-4362-4062)
- Hélène Tevissen
- António Gil‐Nagel (ORCID: https://orcid.org/0000-0003-4515-0793)
- Nawale Hadouiri (ORCID: https://orcid.org/0000-0001-7852-5593)
- Álvaro Beltrán‐Corbellini (ORCID: https://orcid.org/0000-0003-2743-0978)
- Daniel G. Calame (ORCID: https://orcid.org/0000-0001-6860-372X)
- Rafael Toledano (ORCID: https://orcid.org/0000-0002-9387-1088)
- Jeremy A. Tanner (ORCID: https://orcid.org/0000-0001-9828-1776)
- Amy Kritzer (ORCID: https://orcid.org/0000-0002-0385-2474)
- Paloma Parra‐Díaz (ORCID: https://orcid.org/0000-0003-4044-4653)
- Luca Soliani (ORCID: https://orcid.org/0000-0002-1411-9200)
- Adrián Valls Carbó (ORCID: https://orcid.org/0000-0002-4831-1276)
- José M. Serratosa (ORCID: https://orcid.org/0000-0003-2239-8948)
- Arnaud Monteil (ORCID: https://orcid.org/0000-0003-1632-7318)
- R Vera-Medialdea
- Egidio Spinelli
- Irene Sánchez‐Miranda Román (ORCID: https://orcid.org/0000-0002-5071-6854)
- Irene García Morales
- Kacie Riley
- Christel Thauvin
Institutions
- Western University (CA)
- Boston Children's Hospital (US)
- Centre National de la Recherche Scientifique (FR)
- Siriraj Hospital (TH)
- Inserm (FR)
- The University of Texas at San Antonio Health Science Center (US)
- Université de Bourgogne (FR)
- Baylor College of Medicine (US)
- Université de Montpellier (FR)
- Mahidol University (TH)
- Centre Hospitalier Universitaire de Grenoble (FR)
- London Health Sciences Centre (CA)
- Hospital Clínico San Carlos (ES)
- Hôpital d'Enfants (FR)
- Hospital Regional Universitario de Málaga (ES)
- Institute for Neurodegenerative Disorders (US)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Hospital Universitario Fundación Jiménez Díaz (ES)
- Centre Hospitalier de Valence (FR)
- Texas Children's Hospital (US)
- Hospital Ruber Internacional (ES)
- Duke University Hospital (US)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Fundacion Centro De Investigacion De Enfermedades Neurologicas (ES)
- Laboratoire d'Excellence Canaux Ioniques d'Intérêt Thérapeutique (FR)
- Institut de Génomique Fonctionnelle (FR)
- Le Bonheur Children's Hospital (US)
- Hospital Universitario Ramón y Cajal (ES)
- University of Tennessee at Knoxville (US)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- Neurology
- Published
- 2025-03-06
- DOI
- https://doi.org/10.1212/wnl.0000000000213429
- Citations
- 6
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 12.04