1. Laboratory of Neurogenetics and Molecular Medicine – IPER, Institut de Recerca Sant Joan de Déu, 08950 1 , Barcelona , Spain
2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, 08950 2 , Barcelona , Spain
3. Hospital Sant Joan de Déu, 08950 3 Department of Genetic Medicine – IPER , , Barcelona , Spain
4. University of Barcelona, 08036 4 Division of Pediatrics, Faculty of Medicine and Health Sciences , , Barcelona , Spain
5. ERN-ITHACA 5