|
Juvenile Myoclonic Epilepsy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
To date, only six genes harboring pathogenic variants <i>(GABRA1, GABRD, EFHC1, BRD2, CASR, and ICK)</i> with Mendelian and complex inheritance and covering a limited proportion of the world population, are considered as major susceptibility alleles for JME.
|
31611775 |
2019 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
GABRA1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence epilepsy, and idiopathic familial generalized epilepsy.
|
26918889 |
2016 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
GermlineCausalMutation
|
disease |
ORPHANET |
The quest for juvenile myoclonic epilepsy genes.
|
23756480 |
2013 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
GeneticVariation
|
disease |
LHGDN |
In the literature this is the first case of JME with electroencephalograph focal epileptiform abnormalities, but without EFHC1 and GABRA1 gene mutations.
|
17972043 |
2007 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the alpha-1 subunit of the GABAA receptor (GABRA1) and EFHC1 genes have been reported in a few families with autosomal dominant (AD) JME.
|
16839746 |
2006 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
These include benign familial neonatal convulsions due to mutations in KCNQ2 or KCNQ3, generalized epilepsy with febrile seizures plus due to mutations in SCN1A, SCN2A, SCN1B, and GABRG2, autosomal-dominant juvenile myoclonic epilepsy (JME) due to a mutation in GABRA1 and mutations in CLCN2 associated with several IGE sub-types.
|
16302872 |
2005 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
The first mutation in a multigeneration JME family has been recently found in the alpha1-subunit of the GABAA receptor (GABRA1), predicting the single amino acid substitution A322D.
|
16029191 |
2005 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
We report that an Ala322Asp mutation in GABRA1, encoding the alpha1 subunit of the gamma-aminobutyric acid receptor subtype A (GABA(A)), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy.
|
11992121 |
2002 |
|
Juvenile Myoclonic Epilepsy
|
0.670 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Juvenile Myoclonic Epilepsy
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
|
31056671 |
2019 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
|
27521439 |
2016 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
|
27353043 |
2016 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
De novo GABRA1 mutations in Ohtahara and West syndromes.
|
26918889 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
|
21714819 |
2011 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.
|
16718694 |
2006 |
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
|
11992121 |
2002 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|