Characteristics of people with the STXBP1 syndrome in Spain: Implications for diagnosis
Introduction: STXBP1 syndrome is a genetic disorder that affects one of the regulatory mechanisms of neurotransmitter release by the synaptic vesicles and has serious implications for neurodevelopment. Symptoms usually appear in the first days or months of life, and very often include epilepsy, psyc...
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Elsevier,
2020-02-01T00:00:00Z.
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A1234.567 |
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