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3. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review. André MV; Cacciagli P; Cano A; Vaugier L; Roussel M; Girard N; Chabrol B; Villard L; Milh M Arch Pediatr; 2021 Jan; 28(1):87-92. PubMed ID: 33342683 [TBL] [Abstract][Full Text] [Related]
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19. [Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. Zhang YH; Sun HH; Liu XY; Ma XW; Yang ZX; Xiong H; Qin J; Lin Q; Wu XR Zhonghua Er Ke Za Zhi; 2008 Oct; 46(10):769-73. PubMed ID: 19099883 [TBL] [Abstract][Full Text] [Related]
20. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Schuelke M; Smeitink J; Mariman E; Loeffen J; Plecko B; Trijbels F; Stöckler-Ipsiroglu S; van den Heuvel L Nat Genet; 1999 Mar; 21(3):260-1. PubMed ID: 10080174 [No Abstract] [Full Text] [Related] [Next] [New Search]