Andreas Hahn

TL;DR: Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.

TL;DR: A concerning median diagnostic latency of 17 to 20 years was noted between seizure onset and the genetic diagnosis, intensely delaying appropriate medical surveillance for potentially life threatening cardiovascular complications as well as genetic risk assessment and counseling prior to family planning for this X-linked dominant inherited disorder with high perinatal lethality in hemizygous males.

TL;DR: The data suggest that classical infantile Pompe disease still remains a life-threatening condition associated with high morbidity and often dismal prognosis, and a relevant number of patients do not benefit definitely from ERT.

TL;DR: Cerebral MRI abnormalities occur in more than one third of children with single ventricle, while the neuro-developmental status is less severely affected before Fontan procedure, warranting further studies to determine aetiology and further evolution until school-age.

TL;DR: A definite genetic diagnosis can be reached in nearly 80% with HCM of childhood onset by applying next-generation sequencing and directing further diagnostics by discussing unsolved cases in a multidisciplinary board.