OMIM: 266100Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ALDH7A1 |
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| Dna Change: | c.1364T>C |
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| Protein Change: | p.Val455Ala |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 16 |
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| Transcript: | NM_001201377.1 |
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References
Tlili A, Hamida Hentati N, Chaabane R, Gargouri A, Fakhfakh F, Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.Gene. 2013; 518(2):242-5