Progressive myoclonic epilepsy

Lafora disease [DS:H01994]
Unverricht-Lundborg disease [DS:H01995]
Neuronal ceroid lipofuscinoses [DS:H00149]
Type I sialidosis [DS:H00142]
Dentatorubro-pallidoluysian atrophy [DS:H00060]
Type III Gaucher disease [DS:H00126]
Myoclonic epilepsy with ragged-red fibers [DS:H01356]

Progressive myoclonic epilepsy (EPM) 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, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA), and type III Gaucher disease. 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

(EPM1) CSTB [HSA:1476] [KO:K13907]
(EPM1B) PRICKLE1 [HSA:144165] [KO:K04511]
(EPM2A) EPM2A [HSA:7957] [KO:K14165]
(EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
(EPM3) KCTD7 [HSA:154881] [KO:K21917]
(EPM4) SCARB2 [HSA:950] [KO:K12384]
(EPM5) PRICKLE2 [HSA:166336] [KO:K04511]
(EPM6) GOSR2 [HSA:9570] [KO:K08496]
(EPM7) KCNC1 [HSA:3746] [KO:K04887]
(EPM8) CERS1 [HSA:10715] [KO:K04710]
(EPM9) LMNB2 [HSA:84823] [KO:K07611]
(EPM10) PRDM8 [HSA:56978] [KO:K20797]

PMID:20739785

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

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Nat Genet 47:39-46 (2015)
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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

Hum Mol Genet 24:4483-90 (2015)
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Early-onset Lafora body disease.

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