A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency
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| Description | scientific article published on 3 October 2013 |
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author: Karine Siquier-pernet Agnès Rötig Marlene Rio Giulia Barcia Laurence Colleaux |
| Publication date | October 3, 2013 |
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