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

Autor: Jennifer Hirst, Sarah von Spiczak, Helle Hjalgrim, José M. Serratosa, Dana Craiu, Zaid Afawi, Hande Caglayan, Sarah Weckhuysen, Johanna A. Jähn, Tine Deconinck, Stéphanie Baulac, Felix Rosenow, Pasquale Striano, Hiltrud Muhle, Tiina Talvik, Patrick May, Petia Dimova, Arvid Suls, Carolien G.F. de Kovel, O Tarta-Arsene, Ingo Helbig, Christel Depienne, Katia Hardies, Tania Djémié, Bobby P. C. Koeleman, Carla Marini, Karl Martin Klein, Renzo Guerrini, Federico Zara, Rikke S. Møller, Dorota Hoffman-Zacharska, Yvonne G. Weber, Ulrich Stephani, Nina Barišić, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Rosa Guerrero-López, Peter De Jonghe, Rudy Balling, Eric LeGuern

Publikováno v: Human molecular genetics
Hardies, K, May, P, Djémié, T, Tarta-Arsene, O, Deconinck, T, Craiu, D, Helbig, I, Suls, A, Balling, R, Weckhuysen, S, De Jonghe, P, Hirst, J, AR working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2015, ' Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly ', Human Molecular Genetics, vol. 24, no. 8, pp. 2218-2227 . https://doi.org/10.1093/hmg/ddu740

We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the sigma subunit of the adaptor protein com

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https://doi.org/10.1093/hmg/ddu740