Condition: MYOCLONIC-ATONIC EPILEPSY
rs1064795099
in
SLC6A1
gene and
MYOCLONIC-ATONIC EPILEPSY
PMID 29315614
2018 Defining the phenotypic spectrum of SLC6A1 mutations.
PMID 28856709
2017 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
PMID 25865495
2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
PMID 22495306
2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 24859339
2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
rs1559623389
in
SLC6A1;SLC6A1-AS1
gene and
MYOCLONIC-ATONIC EPILEPSY
PMID 25865495
2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.