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1.
Krenn, M.* et al.: Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann. Clin. Transl. Neurol. 6, 968-973 (2019)
2.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
3.
Koch, J.* et al.: CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279-286 (2016)