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WECKHUYSEN , S.

Last name: WECKHUYSEN

First name: S.

2015 (v1)

Publication

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Hardies, K. May, P. Djémié, T.

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Uploaded on: April 14, 2023
2016 (v1)

Publication

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STXBP1 Encephalopathy: A Neurodevelopmental Disorder Including Epilepsy

Stamberger, H. Nikanorova, M. Willemsen, M. H.

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. Methods: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we...

Uploaded on: April 14, 2023