Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.
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| Title: | Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. |
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| Authors: | Bamba S; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States., Sidibé L; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.; Service de Pédiatrie, Centre Hospitalier Universitaire de Gabriel Touré, Bamako, Mali., Diallo SH; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.; Service de Neurologie, Centre Hospitalier Universitaire de Gabriel Touré, Bamako, Mali., Cissé L; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali., Dembélé K; Hôpital du District de la Commune IV, Bamako, Mali., Yalcouyé A; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali., Ji W; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States., Dembélé ME; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali., Diarra S; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States., Maiga ADB; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali., Traoré O; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali., Diallo S; Service de Neurologie, Centre Hospitalier Universitaire de Gabriel Touré, Bamako, Mali., Mefoung SE; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali., Touré A; Service de Pédiatrie, Centre Hospitalier Universitaire de Gabriel Touré, Bamako, Mali.; Clinique Khaïdara, Bamako, Mali., Koné A; Clinique Khaïdara, Bamako, Mali., Jeffries L; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States., Guinto CO; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.; Service de Neurologie, Centre Hospitalier Universitaire du Point G, Bamako, Mali., Mis EK; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States., Fischbeck KH; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States., Khokha MK; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States., Lakhani SA; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States., Landouré G; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.; Service de Neurologie, Centre Hospitalier Universitaire du Point G, Bamako, Mali. |
| Source: | Frontiers in genetics [Front Genet] 2024 Nov 18; Vol. 15, pp. 1412442. Date of Electronic Publication: 2024 Nov 18 (Print Publication: 2024). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2024.1412442 |
