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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.
Nat Commun. 2019.
PMID: 30755616
Free PMC article.
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, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium; Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J.
Hardies K, et al.
Hum Mol Genet. 2015 Apr 15;24(8):2218-27. doi: 10.1093/hmg/ddu740. Epub 2014 Dec 30.
Hum Mol Genet. 2015.
PMID: 25552650
Free PMC article.
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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium; Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S.
Hardies K, et al.
Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19.
Brain. 2016.
PMID: 27435091
Free PMC article.
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