SCIENTIFIC BACKGROUND

ADRA2B, CACNB4, CASR, CERS1, CLCN2, CNTN2, CSTB, EFHC1, EPM2A, GABRA1, GABRD, GOSR2, KCNC1, KCNMA1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, PRICKLE2, SCARB2, SLC6A1, TBC1D24

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 myoclonic epilepsy type 10 (PME10) (PRDM8, AR)
  • Progressive myoclonic epilepsy type 1A (PME1A) (Unverricht and Lundborg) (CSTB, AR)
  • Progressive myoclonic epilepsy type 1B (PME1B) (Unverricht and Lundborg) (PRICKLE1, AR)
  • Progressive myoclonic epilepsy type 2A (PME2A; Lafora) (EPM2A, AR)
  • Progressive myoclonic epilepsy type 2B (PME2B; Lafora) (NHLRC1, AR)
  • Progressive myoclonic epilepsy type 3 with or without intracellular inclusions (PME3) (KCTD7, AR)
  • Progressive myoclonic epilepsy type 4 with or without renal failure (PME4) (SCARB2, AR)
  • Progressive myoclonic epilepsy type 5 (PME5) (PRICKLE2, AD)
  • Progressive myoclonic epilepsy type 6 (PME6) (GOSR2, AR)
  • Progressive myoclonic epilepsy type 7 (PME7) (KCNC1, AD)
  • Progressive myoclonic epilepsy type 8 (PME8) (CERS1, AR)
  • Progressive myoclonic 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.

GENES

ADRA2B, CACNB4, CASR, CERS1, CLCN2, CNTN2, CSTB, EFHC1, EPM2A, GABRA1, GABRD, GOSR2, KCNC1, KCNMA1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, PRICKLE2, SCARB2, SLC6A1, TBC1D24

ASSOCIATED TESTS

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