progressive myoclonic epilepsy gene list

The 11 genes (and one SNP) are included in Amplexa's Progressive Myoclonic Epilpesy panel are listed below.

This test is DS/EN ISO 15189:2013 accredited.

CERS1

606919

PME candidate

CERS2

606920

PME candidate

COL6A2

120240

PME dandidate

CSTB

601145

ULD

EPM2A

607566

Lafora

GOSR2

604027

PME

KCNC1 p.Arg320His

176258

PME

KCTD7

611725

PME

NHLRC1

608072

Lafora

PRICKLE1

608500

PME

PRICKLE2

608501

PME

SCARB2

602257

PME



List of abbreviations:

Lafora: Lafora Disease;

PME:Progressive Myoclonic Epilepsy

ULD: Myoclonic epilepsy of Unverricht andLundborg


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