Antiquitin mutations in folinic-acid responsive seizures

In this paper in Annals, the author report on nine patients with folinic-acid responsive seizures with mutations in antiquitin (ALDH7A1), which was previously only associated with pyridoxine-dependent seizures.

Folinic acid responsive seizures are a cause of neonatal epilepsy and characteristic peaks of unidentified compounds are observed on chromatography of the cerebrospinal fluid that sets this condition apart from other neonatal epilepsies. Now this condition is found to be allelic with pyridoxine-dependent seizures with a number of implications for diagnosis and treatment.


This 2009 blog post has been transferred to the EuroEPINOMICS blog from

Please quote this blog (APA format) as

Helbig, I. Antiquitin mutations in folinic-acid responsive seizures. Retrieved [enter date], from

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