SCIENTIFIC BACKGROUND

CHRNA2, CHRNA4, CHRNB2, CPA6, DEPDC5, GAL, GRIN2A, KCNA1, KCNT1, LGI1, NPRL2, NPRL3, RELN, SCN3A

Scientific Background

  • Episodic ataxia type 1 (EA1) (KCNA1)
  • Familial focal epilepsy type 1 (DEPDC5)
  • Familial focal epilepsy type 2 (NPRL2)
  • Familial focal epilepsy type 3 (NPRL3)
  • Familial focal epilepsy type 4 (SCN3A)
  • Familial temporal lobe epilepsy type 1 (LGI1)
  • Familial temporal lobe epilepsy type 5 (CPA6)
  • Familial temporal lobe epilepsy type 8 (GAL)
  • Familial temporal lobe epilepsy type 7 (RELN)
  • Focal epilepsy and speech disorder (FESD) (GRIN2A)
  • Nocturnal frontal lobe epilepsy type 1 (CHRNA4)
  • Nocturnal frontal lobe epilepsy type 3 (CHRNB2)
  • Nocturnal frontal lobe epilepsy type 4 (CHRNA2)
  • Nocturnal frontal lobe epilepsy type 5 (KCNT1)

 

All disorders are inherited in an autosomal dominant pattern. Genes in bold are core genes.

 

Epilepsy, familial focal
Genes: DEPDC5, GRIN2A, KCNA1, NPRL2, NPRL3, SCN3A

 

Epilepsy, familial temporal lobe
Genes: CHRNA2, CHRNA4, CHRNB2, CPA6, GAL, KCNT1, LGI1, RELN

 

For detailed information on epilepsies and diagnostics, please visit our overview page EPILEPSY.

GENES

CHRNA2, CHRNA4, CHRNB2, CPA6, DEPDC5, GAL, GRIN2A, KCNA1, KCNT1, LGI1, NPRL2, NPRL3, RELN, SCN3A

ASSOCIATED TESTS

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