Publications
New drugs on the horizon for cerebral edema: what's in the clinical development pipeline?. Expert Opin Investig Drugs 29, 1099-1105 (2020).
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol 60, 83-7 (2016).