Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali
We identified rare variants in three genes (<i>GRIN1, SYNJ1,</i> and <i>RARS2</i>) associated with early onset of DEEs in SSA, expanding their genetic and epidemiological spectrum. Larger cohort studies in SSA may unravel more variants with potential clinical implications and further our understanding of the disease mechanism.
Authors
- Abdoulaye Yalcouyé (ORCID: https://orcid.org/0000-0003-4279-7380)
- M Dembélé (ORCID: https://orcid.org/0009-0005-4332-5176)
- Guida Landouré (ORCID: https://orcid.org/0000-0002-5921-7832)
- Alassane Baneye Maīga (ORCID: https://orcid.org/0000-0002-7296-7785)
- Emily K. Mis
- Lassana Cissé (ORCID: https://orcid.org/0000-0001-6574-0956)
- Mustafa K. Khokha (ORCID: https://orcid.org/0000-0002-9846-7076)
- Weizhen Ji
- Kenneth H. Fischbeck (ORCID: https://orcid.org/0000-0002-8316-6895)
- Saquib A. Lakhani (ORCID: https://orcid.org/0000-0003-3235-3460)
- Salia Bamba (ORCID: https://orcid.org/0000-0002-1680-5183)
- Lauren Jeffries (ORCID: https://orcid.org/0000-0002-6419-0515)
- Salimata Diallo
- Samuel Ephrata Mefoung
- Salimata Diarra (ORCID: https://orcid.org/0000-0003-2160-9942)
- Oumou Traoré
- Seybou Hassane Diallo
- Amadou Touré
- Adama Koné
- Kékouta Dembélé
- Cheick O. Guinto
- L. N. Sidibé
Institutions
- National Institutes of Health (US)
- Yale University (US)
- University of Bamako (ML)
- National Institute of Neurological Disorders and Stroke (US)
- Université des Sciences, des Techniques et des Technologies de Bamako (ML)
- Mali-Folkecenter (ML)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-11-18
- DOI
- https://doi.org/10.3389/fgene.2024.1412442
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Fogarty International Center
- National Institute of Neurological Disorders and Stroke