Signatures of emotional words
Tag: epilepsy
Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred
Lafora disease (LD) is a severe autosomal recessive disease, which usually presents as seizure and myoclonus, followed by behavioral changes, dysar…
A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication
We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was id…
Circular RNA hsa_circ_0000288 protects against epilepsy in mice by binding to and stabilizing caprin1 protein
Current anti-epileptic drugs remain to be unsatisfactory, new therapeutic approaches are needed. Circular RNA is a promising class of therapeutic R…
GABA transporter 1 is a promising drug target for CUL4B mutation-associated epilepsy
Cullin 4B (CUL4B) is the scaffold protein in the CUL4B-RING E3 ubiquitin ligase (CRL4B) complex. Loss-of-function mutations in the human CUL4B