Condition: Epilepsy, Generalized
rs4794333 in
CDK5RAP3 gene and
Epilepsy, Generalized
PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
rs375168720 in
DDHD2 gene and
Epilepsy, Generalized
PMID 25417924 2014 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
PMID 24337409 2014 Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
PMID 23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
PMID 24517879 2014 Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
rs11943905 in
GABRA2 gene and
Epilepsy, Generalized
PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
rs121964976 in
GLDC gene and
Epilepsy, Generalized
PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
rs4665630 in
KLHL29 gene and
Epilepsy, Generalized
PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
rs796052908 in
MIR6766;POLG gene and
Epilepsy, Generalized
PMID 18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
rs1939012 in
MMP8 gene and
Epilepsy, Generalized
PMID 25087078 2014 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
rs1044352 in
PCDH7 gene and
Epilepsy, Generalized
PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
PMID 25087078 2014 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
rs13200150 in
PTPRK gene and
Epilepsy, Generalized
PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
rs11890028 in
SCN1A;SCN1A-AS1 gene and
Epilepsy, Generalized
PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.