Myoclonic Epilepsy, Progressive

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CSTB, SCARB2, PRICKLE1, KCTD7, ASAH1, GOSR2, EPM2A, PFKL, EJM2, BSCL2, LSM2, TBC1D24, STX5, TFF1, TRAPPC10, U2AF1, LMNB2, DHX40, CDK5R1, SEC22B, CARS2, BET1, TPPP, PADI4, SACS, SMN2, TMPRSS3, TMED9, CLN6, SNAP25, AIRE, SMN1, KCNC1, BCL2, CACNA1A, CHRNA4, COL6A2, CST3, GSTA1, GSTT1, HPE1, HRES1, ITGB2, KCNQ2, ARSA, KCNQ3, LCN2, LMNA, LY6E, MECP2, NEU1, SERPINI1, PRNP, PWP2, ATXN2, SCN1A

Drugs

Brivaracetam

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Wienker et al. (1979) reported a possibly X-linked form. They observed 4 affected males in 3 different sibships related through females, some of whom showed mild, variable symptoms. A fifth male in an earlier generation may have been affected. The authors suggested that kindred 10 of Vogel et al. (1965) may likewise have had an X-linked form of PME.