Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene. Pyridoxine administration is usually effective for the treatment of PDE. We identified compound heterozy...

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Bibliographic Details
Main Authors: Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto
Format: Article
Language:English
Published: Society of Tokyo Women's Medical University 2019-11-01
Series:Tokyo Women's Medical University Journal
Subjects:
rna splicing
hemi-allelic expression
neonatal seizure
damaging scores
reverse transcribed-pcr
Online Access:https://www.jstage.jst.go.jp/article/twmuj/3/0/3_2019005/_pdf/-char/en

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