Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589034 | European Journal of Medical Genetics | 2016 | 5 Pages |
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.
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Authors
Bernt Popp, Regina Trollmann, Christian Büttner, Almuth Caliebe, Christian T. Thiel, Ulrike Hüffmeier, André Reis, Christiane Zweier,