Description
Scientific Background
- Epilepsy with myoclonic-atonic seizures (MAE) (SLC6A1, AD)
- Familial infantile myoclonic epilepsy (FIME) (TBC1D24, AR)
- Familial myoclonic epilepsy of adulthood 2 (ADRA2B, AD)
- Familial myoclonic epilepsy of adulthood 5 (CNTN2, AR)
- Generalized epilepsy with paroxysmal dyskinesia (GEPD) (KCNMA1, AD)
- Idiopathic generalized epilepsy type 8 (CASR, AD)
- Juvenile myoclonic epilepsy type 1 (EJM1) (EFHC1, AD)
- Juvenile myoclonic epilepsy type 5 (EJM5) (GABRA1, AD)
- Juvenile myoclonic epilepsy type 6 (EJM6) (CACNB4, AD)
- Juvenile myoclonic epilepsy type 7 (EJM7) (GABRD, AD)
- Juvenile myoclonic epilepsy type 8 (EJM8) (CLCN2, AD)
- Progressive myoclonus epilepsy type 10 (PME10) (PRDM8, AR)
- Progressive myoclonus epilepsy type 1A (PME1A) (Unverricht and Lundborg) (CSTB, AR)
- Progressive myoclonus epilepsy type 1B (PME1B) (Unverricht and Lundborg) (PRICKLE1, AR)
- Progressive myoclonus epilepsy type 2A (PME2A; Lafora) (EPM2A, AR)
- Progressive myoclonus epilepsy type 2B (PME2B; Lafora) (NHLRC1, AR)
- Progressive myoclonus epilepsy type 3 with or without intracellular inclusions (PME3) (KCTD7, AR)
- Progressive myoclonus epilepsy type 4 with or without renal failure (PME4) (SCARB2, AR)
- Progressive myoclonus epilepsy type 5 (PME5) (PRICKLE2, AD)
- Progressive myoclonus epilepsy type 6 (PME6) (GOSR2, AR)
- Progressive myoclonus epilepsy type 7 (PME7) (KCNC1, AD)
- Progressive myoclonus epilepsy type 8 (PME8) (CERS1, AR)
- Progressive myoclonus epilepsy type 9 (PME9) (LMNB2, AR)
Disorders are inherited in an autosomal dominant (AD) or autosomal recessive (AR) pattern. Genes in bold are core genes.
Epilepsy, juvenile myoclonic
Genes: CACNB4, CASR, CLCN2, EFHC1, GABRA1, GABRD, KCNMA1, SLC6A1, TBC1D24
Epilepsy, progressive myoclonic
Genes: CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2
For detailed information on epilepsies and diagnostics, please visit our overview page EPILEPSY.
