Condition: FEBRILE CONVULSIONS, FAMILIAL, 8
rs1060501889 in
GABRG2 gene and
FEBRILE CONVULSIONS, FAMILIAL, 8
PMID 18566737 2008 SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.
PMID 23720301 2013 Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
PMID 25731747 2015 Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation.
PMID 15866052 2005 The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors.
PMID 18094250 2007 GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition.
PMID 12097483 2002 Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.
PMID 15470132 2004 The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.
PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
PMID 16510738 2006 Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.
PMID 24630281 2014 The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures.