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.