EPILEPSY, FOCAL

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

Description

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
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