Table 2_Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.docx

Table 2_Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.docx

Background and Objectives<p>Developmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developmental delay or regression. Their genetic b...

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Main Author: Salia Bamba (19735792) (author)
Other Authors: Lala Sidibé (20277840) (author), Seybou H. Diallo (9617078) (author), Lassana Cissé (19735789) (author), Kékouta Dembélé (20277843) (author), Abdoulaye Yalcouyé (11764652) (author), Weizhen Ji (267307) (author), Mohamed Emile Dembélé (19735795) (author), Salimata Diarra (19735801) (author), Alassane dit Baneye Maiga (20277846) (author), Oumou Traoré (11764655) (author), Salimata Diallo (9617069) (author), Samuel Ephrata Mefoung (20277849) (author), Amadou Touré (6211472) (author), Adama Koné (11578267) (author), Lauren Jeffries (8341263) (author), Cheick O. Guinto (20277852) (author), Emily K. Mis (8341257) (author), Kenneth H. Fischbeck (19735816) (author), Mustafa K. Khokha (7407419) (author), Saquib A. Lakhani (5546678) (author), Guida Landouré (11764679) (author)
Published: 2024
Subjects:
Genetics
developmental epileptic encephalopathies (DEEs)
exome sequencing
novel variant
sub-Saharan
Mali
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