EPILEPSY, THERAPY RELEVANT

ALDH7A1, KCNQ2, PLPBP, PNPO, PRRT2, SCN1A, SLC2A1

Description

Scientific Background

  • Dravet syndrome (SCN1A, AD)
  • Early Infantile Epileptic Encephalopathy (KCNQ2, AD)
  • Early-onset vitamin B6-dependent epilepsy (PLPBP, AR)
  • Glucose transporter defect type 1 (SLC2A1, AD)
  • Infantile convulsions and choreoathetosis (PRRT2, AD)
  • Pyridoxial phosphate-dependent epilepsy (PNPO, AR)
  • Pyridoxine-dependent epilepsy (ALDH7A1, AR)

 

Disorders are inherited in an autosomal dominant (AD) or autosomal recessive (AR) pattern. Genes in bold are core genes.

 

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

GENES

ALDH7A1, KCNQ2, PLPBP, PNPO, PRRT2, SCN1A, SLC2A1
How to order