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Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar-Thalamic-Cortical Loop.
Cuccurullo C, Striano P, Coppola A. Cuccurullo C, et al. Cells. 2023 Jun 13;12(12):1617. doi: 10.3390/cells12121617. Cells. 2023. PMID: 37371086 Free PMC article. Review.
Familial adult myoclonus Epilepsy (FAME) is a non-coding repeat expansion disorder that has been reported under different acronyms and initially linked to four main loci: FAME1 (8q23.3-q24.1), FAME 2 (2p11.1-q12.1), FAME3 (5p15.31-p15.1), and FAME4 (3q …
Familial adult myoclonus Epilepsy (FAME) is a non-coding repeat expansion disorder that has been reported under differe …
[Episodic ataxias].
Herrmann A, Braathen GJ, Russell MB. Herrmann A, et al. Tidsskr Nor Laegeforen. 2005 Aug 11;125(15):2005-7. Tidsskr Nor Laegeforen. 2005. PMID: 16100538 Free article. Review. Norwegian.
BACKGROUND: Episodic ataxias (EAs) exist in sporadic and familial forms. They have considerable genetic and clinical heterogeneity. ...EAs are characterized by both locus and allelic heterogeneity, since different genes can cause an almost similar phenotype and different m …
BACKGROUND: Episodic ataxias (EAs) exist in sporadic and familial forms. They have considerable genetic and clinical heterogeneity. . …
Mitochondrial DNA mutations in diseases of energy metabolism.
Wallace DC. Wallace DC. J Bioenerg Biomembr. 1994 Jun;26(3):241-50. doi: 10.1007/BF00763096. J Bioenerg Biomembr. 1994. PMID: 8077179 Review.
Moderately deleterious nucleotide substitutions are more recent and cause maternally-inherited diseases such as Leber's Hereditary Optic Neuropathy (LHON) and Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF). Severe nucleotide substitutions are generally new …
Moderately deleterious nucleotide substitutions are more recent and cause maternally-inherited diseases such as Leber's Hereditary Optic Neu …
Genetics of myoclonic and myoclonus epilepsies.
Minassian BA, Sainz J, Delgado-Escueta AV. Minassian BA, et al. Clin Neurosci. 1995-1996;3(4):223-35. Clin Neurosci. 1995. PMID: 8891396 Review.
Mendelian forms of benign myoclonic epilepsies where a chromosomal locus has been defined include (1) the autosomal dominant (AD) juvenile myoclonic epilepsy (JME) in chr. 6p11, (2) the autosomal dominant childhood absence epilepsy which evolves to JME …
Mendelian forms of benign myoclonic epilepsies where a chromosomal locus has been defined include (1) the autosomal dominant (AD) juv …