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Objective
γ‐Aminobutyric acid type A (GABAA) receptor subunit gene mutations are major causes of various epilepsy syndromes, including severe kinds such as Dravet syndrome. Although the GABAA receptor is a major target for antiseizure medications, treating GABAA receptor mutations with receptor channel modulators is ineffective. Here, we determined the effect of a novel treatment with 4‐phenylbutyrate...
The decision to perform gonadectomy in patients with 45,X/46,XY mosaicism is often difficult: the increased gonadal tumor risk has to be balanced against the functional capacity of the gonad and the psychological burden of gonadectomy.We combined detailed pathological investigations with corresponding clinical data of 26 45,X/46,XY individuals (43 gonadal specimen), divided into 3 groups according...
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