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.