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01-12-2015 | Original Article

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene

Authors: Savina Tincheva, Tihomir Todorov, Albena Todorova, Ralica Georgieva, Dimitar Stamatov, Iglika Yordanova, Tanya Kadiyska, Bilyana Georgieva, Maria Bojidarova, Genoveva Tacheva, Ivan Litvinenko, Vanyo Mitev

Published in: Neurological Sciences | Issue 12/2015

Abstract

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. The seizures cannot be controlled with antiepileptic medications but respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B₆). PDE is caused by mutations in the ALDH7A1 gene. Molecular genetic analysis of the ALDH7A1 gene was performed in seven patients, referred with clinical diagnosis of PDE. Mutations were detected in a dizygotic twin pair and a non-related boy with classical form of PDE. Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations. Here, we report the first genetically proven cases of PDE in Bulgaria.

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Title: First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene
Authors: Savina Tincheva
Tihomir Todorov
Albena Todorova
Ralica Georgieva
Dimitar Stamatov
Iglika Yordanova
Tanya Kadiyska
Bilyana Georgieva
Maria Bojidarova
Genoveva Tacheva
Ivan Litvinenko
Vanyo Mitev
Publication date: 01-12-2015
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 12/2015
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-015-2338-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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