Article ID Journal Published Year Pages File Type
5589034 European Journal of Medical Genetics 2016 5 Pages PDF
Abstract
This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
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