SCIENTIFIC BACKGROUND

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

  • Dravet syndrome (SCN1A, AD)
  • Early infantile eileptic encephalopathy (KCNQ2, AD)
  • Early-onset vitamin B6-dependent epilepsy (PLPBP, AR)
  • Glucose transporter type 1 deficiency syndrome (SLC2A1, AD)
  • Familial infantile convulsions and paroxysmal choreoathetosis (PRRT2, AD)
  • Pyridoxamine 5'-phosphate oxidase deficiency (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
ASSOCIATED TESTS
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