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Publications by Sergio Padilla-Lopez

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

American Journal of Human Genetics

English