Condition: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
rs142740233
in
SLC12A5
gene and
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
PMID 26528127
2015 Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
PMID 24668262
2014 A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
PMID 24928908
2014 Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.