Progressive myoclonic epilepsy (PME), including:
Lafora disease (LBD);
Unverricht-Lundborg disease (ULD);
Neuronal ceroid lipofuscinoses (NCL);
Type I sialidosis;
Action myoclonus-renal failure syndrome (DRPLA);
Type III Gaucher disease (GD)

Progressive myoclonic epilepsy (PME) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease (LBD), Unverricht-Lundborg disease (ULD), the neuronal ceroid lipofuscinoses (NCL), type I sialidosis (cherry-red spot myoclonus), action myoclonus-renal failure syndrome (AMRF/DRPLA), and type III Gaucher disease (GD). Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF).

Nervous system disease

(LBD) EPM2A [HSA:7957] [KO:K14165]
(LBD) NHLRC1 [HSA:378884] [KO:K10602]
(LBD) PRICKLE1 [HSA:144165] [KO:K04511]
(ULD) CSTB [HSA:1476] [KO:K13907]
(CLN1) PPT1 [HSA:5538] [KO:K01074]
(CLN2) TPP1 [HSA:1200] [KO:K01279]
(CLN3) CLN3 [HSA:1201] [KO:K12389]
(CLN5) CLN5 [HSA:1203] [KO:K12390]
(CLN6) CLN6 [HSA:54982] [KO:K12359]
(CLN7) MFSD8 [HSA:256471] [KO:K12307]
(CLN8) CLN8 [HSA:2055] [KO:K12360]
(CLN10) CTSD [HSA:1509] [KO:K01379]
(DRPLA) SCARB2 [HSA:950] [KO:K12384]
(Sialidosis) NEU1 [HSA:4758] [KO:K01186]
(GD III) NEU1 [HSA:2629] [KO:K01201]
(MERRF) MTTK [HSA:4566] [KO:K14229]
(MERRF) MTTL1 [HSA:4567] [KO:K14228]
(MERRF) MTTH [HSA:4564] [KO:K14226]
(MERRF) MTTS1 [HSA:4574] [KO:K14233]
(MERRF) MTTS2 [HSA:4575] [KO:K14233]
(MERRF) MTTF [HSA:4558] [KO:K14231]
(EPM3)  KCTD7 [HSA:154881]

Clonazepam [DR:D00280]
Sodium valproate [DR:D00710]
Zonisamide [DR:D00538]
Piracetam [DR:D01914]
Levetiracetam [DR:D00709]

See [DS:H00126] for Gaucher disease, [DS:H00142] for sialidosis, and [DS:H00149] for neuronal ceroid lipofuscinoses (NCL).

PMID:20739785 (description, gene)

Satishchandra P, Sinha S

Progressive myoclonic epilepsy.

Neurol India 58:514-22 (2010)

PMID:19469843 (description, gene)

Ramachandran N, Girard JM, Turnbull J, Minassian BA

The autosomal recessively inherited progressive myoclonus epilepsies and their genes.

Epilepsia 50 Suppl 5:29-36 (2009)

PMID:18976727 (gene)

Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Am J Hum Genet 83:572-81 (2008)

PMID:21710140

Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium  conductance in neurons.

Mol Neurobiol 44:111-21 (2011)

PMID:20301774

Fox MH, Bassuk AG

PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia

(1993)