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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.
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
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  Data: Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.
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  Data: <searchLink fieldCode="AU" term="%22Bamba+S%22">Bamba S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sidibé+L%22">Sidibé L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Diallo+SH%22">Diallo SH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cissé+L%22">Cissé L</searchLink>; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Dembélé+K%22">Dembélé K</searchLink>; Hôpital du District de la Commune IV, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Yalcouyé+A%22">Yalcouyé A</searchLink>; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Ji+W%22">Ji W</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States.<br /><searchLink fieldCode="AU" term="%22Dembélé+ME%22">Dembélé ME</searchLink>; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Diarra+S%22">Diarra S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Maiga+ADB%22">Maiga ADB</searchLink>; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Traoré+O%22">Traoré O</searchLink>; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Diallo+S%22">Diallo S</searchLink>; Service de Neurologie, Centre Hospitalier Universitaire de Gabriel Touré, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Mefoung+SE%22">Mefoung SE</searchLink>; Faculté de Médecine et d'Odontostomatologie, University of Sciences Techniques and Technologies of Bamako, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Touré+A%22">Touré A</searchLink>; Service de Pédiatrie, Centre Hospitalier Universitaire de Gabriel Touré, Bamako, Mali.; Clinique Khaïdara, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Koné+A%22">Koné A</searchLink>; Clinique Khaïdara, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Jeffries+L%22">Jeffries L</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States.<br /><searchLink fieldCode="AU" term="%22Guinto+CO%22">Guinto CO</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mis+EK%22">Mis EK</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States.<br /><searchLink fieldCode="AU" term="%22Fischbeck+KH%22">Fischbeck KH</searchLink>; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Khokha+MK%22">Khokha MK</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States.<br /><searchLink fieldCode="AU" term="%22Lakhani+SA%22">Lakhani SA</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States.<br /><searchLink fieldCode="AU" term="%22Landouré+G%22">Landouré G</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2024 Nov 18; Vol. 15, pp. 1412442. <i>Date of Electronic Publication: </i>2024 Nov 18 (<i>Print Publication: </i>2024).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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