Katia Hardies
University of Antwerp(BE)VIB-UAntwerp Center for Molecular Neurology(BE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Ion channel regulation and function
Most-Cited Works
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → Delineating the GRIN1 phenotypic spectrum(2016)202 cited
- → Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes(2014)197 cited
- → Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia(2015)111 cited
- → Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients(2016)90 cited
- → Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline(2016)82 cited
- → Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders(2013)77 cited
- → Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features(2017)70 cited
- → Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly(2014)62 cited
- → Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish(2019)51 cited