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Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1
Mathieu Milh1, Ana Pop, Warsha Kanhai
1INSERM, U910, Aix-Marseille Université, Marseille, France. mathieu.milh@ap-hm.fr
Abstract:
We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous intronic mutation in ALDH7A1 resulting in two types of transcripts: the major transcript containing a pseudoexon, and the minor transcript representing the authentic spliced transcript. In future, this mutation may be targeted with antisense-therapy aiming at exclusion of the pseudoexon.
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