Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
rs1554689315
in
GABBR2
gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
PMID 29100083
2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
PMID 28856709
2017 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
PMID 29369404
2018 A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.