Sorina M Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, Tobias Iff, Thomas Schmitt-Mechelke, Karoline Otten, Annette Hackenberg, Marie-Claude Addor, Andrea Klein, Silvia Azzarello-Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauc. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European journal of human genetics : EJHG. vol 27. issue 3. 2019-05-20. PMID:30552426. |
we further support candidacy for neurodevelopmental disorders of four previously described genes (pik3ap1, gtf3c3, ufc1, and wrap53), three of which also followed a recessive inheritance pattern. |
2019-05-20 |
2023-08-13 |
Not clear |