Progressive myoclonic epilepsy

Definition:

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).

References:

[1]. Alexander G Bassuk, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83(5):572-81. [Content Brief]

[2]. Edoardo Ferlazzo, et al. Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. Mov Disord. 2009 May 15;24(7):1016-22. [Content Brief]

[3]. Hirotaka Tao, et al. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11;88(2):138-49. [Content Brief]

[4]. John A Damiano, et al. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. [Content Brief]

[5]. Julie Turnbull, et al. Early-onset Lafora body disease. Brain. 2012 Sep;135(Pt 9):2684-98. [Content Brief]

[6]. Kohei Hamanaka, et al. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):549-558. [Content Brief]

[7]. Laure Mazzola, et al. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. Ann Neurol. 2021 Feb;89(2):402-407. [Content Brief]

[8]. Mark A Corbett, et al. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet. 2011 May 13;88(5):657-63. [Content Brief]

[9]. Mikko Muona, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan;47(1):39-46. [Content Brief]

[10]. Nivetha Ramachandran, et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia. 2009 May;50 Suppl 5:29-36. [Content Brief]

[11]. P Satishchandra, et al. Progressive myoclonic epilepsy. Neurol India. 2010 Jul-Aug;58(4):514-22. [Content Brief]

[12]. Régis Azizieh, et al. Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. Mol Neurobiol. 2011 Aug;44(1):111-21. [Content Brief]

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