Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from
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Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity
β Scribed by Susanne Lorenz; Armin Heils; Kirsten P. Taylor; Anne Gehrmann; Hiltrud Muhle; Meike Gresch; Tim Becker; Ulrike Tauer; Ulrich Stephani; Thomas Sander
- Book ID
- 116768390
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 114 KB
- Volume
- 397
- Category
- Article
- ISSN
- 0304-3940
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