Area of research
Genetics · Molecular Biology
Research interest
Research interests include Gut microbiota and health, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
<i>ZFHX3</i>variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage
Identification of novel causative genes of childhood epileptic encephalopathies
<scp><i>CELSR1</i></scp> variants are associated with partial epilepsy of childhood
<i>UNC13B</i> variants associated with partial epilepsy with favourable outcome
HLA Risk Alleles in Aromatic Antiepileptic Drug-Induced Maculopapular Exanthema
Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation