Two patients had both Lafora disease and distinct rare neurodevelopmental disorders related to pathogenic variants in TRIO and SHANK3.
doi.org/10.1002/epi4...

#epilepsy #ILAE #epilepsiaopen #nextgenerationsequencing #NGS #PhelanMcDermidsyndrome #myoclonusepilepsy #WES #wholegenomesequencing #WGS