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.