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11. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Bar C; Barcia G; Jennesson M; Le Guyader G; Schneider A; Mignot C; Lesca G; Breuillard D; Montomoli M; Keren B; Doummar D; Billette de Villemeur T; Afenjar A; Marey I; Gerard M; Isnard H; Poisson A; Dupont S; Berquin P; Meyer P; Genevieve D; De Saint Martin A; El Chehadeh S; Chelly J; Guët A; Scalais E; Dorison N; Myers CT; Mefford HC; Howell KB; Marini C; Freeman JL; Nica A; Terrone G; Sekhara T; Lebre AS; Odent S; Sadleir LG; Munnich A; Guerrini R; Scheffer IE; Kabashi E; Nabbout R Hum Mutat; 2020 Jan; 41(1):69-80. PubMed ID: 31513310 [TBL] [Abstract][Full Text] [Related]
12. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153 [TBL] [Abstract][Full Text] [Related]
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14. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. Matricardi S; De Liso P; Freri E; Costa P; Castellotti B; Magri S; Gellera C; Granata T; Musante L; Lesca G; Oertel J; Craiu D; Hammer TB; Møller RS; Barisic N; Abou Jamra R; Polster T; Vigevano F; Marini C Epilepsia; 2020 Nov; 61(11):2474-2485. PubMed ID: 33063863 [TBL] [Abstract][Full Text] [Related]
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