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24. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Jiang X; Raju PK; D'Avanzo N; Lachance M; Pepin J; Dubeau F; Mitchell WG; Bello-Espinosa LE; Pierson TM; Minassian BA; Lacaille JC; Rossignol E Epilepsia; 2019 Sep; 60(9):1881-1894. PubMed ID: 31468518 [TBL] [Abstract][Full Text] [Related]
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