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A solved puzzle: Familial adult myoclonus epilepsy is a new expansion repeats disorder
Antonietta Coppola, Leonilda Bilo, Pasquale Striano
doi : 10.1111/epi.17545
History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world
Samuel F. Berkovic, Pasquale Striano, Shoji Tsuji
doi : 10.1111/epi.17519
Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world.
Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities
Beatriz G. Giraldez, José M. Serratosa, Salvatore Striano, Akio Ikeda, Pasquale Striano, Antonietta Coppola
doi : 10.1111/epi.17595
Familial adult myoclonus epilepsy (FAME) is an autosomal dominant condition characterized by the association of myoclonic tremor and epilepsy mainly with onset in adulthood. The clinical course is non-progressive or slowly progressive, as epilepsy is commonly controlled with appropriate antiseizure medication and individuals have a normal life expectancy.
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions
Mark A. Corbett, Christel Depienne, Liana Veneziano, Karl Martin Klein, Francesco Brancati, Renzo Guerrini, Federico Zara, Shoji Tsuji, Jozef Gecz
doi : 10.1111/epi.17610
Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and culminating in the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes to date (SAMD12, STARD7, MARCHF6, YEATS2, TNRC6A, and RAPGEF2).
Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection
Isabel Silveira, Mark F. Bennett
doi : 10.1111/epi.17593
In recent years, a large group of familial epilepsies and hereditary ataxias have emerged, caused by an extraordinary type of a novel pentanucleotide repeat expansion that has arisen in a preexisting nonpathogenic repeat tract.
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability
Christel Depienne, Arn M. J. M. van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A. Corbett, Shoji Tsuji
doi : 10.1111/epi.17504
Familial adult myoclonus epilepsy (FAME) results from the same pathogenic TTTTA/TTTCA pentanucleotide repeat expansion in six distinct genes encoding proteins with different subcellular localizations and very different functions, which poses the issue of what causes the neurobiological disturbances that lead to the clinical phenotype.
Familial adult myoclonus epilepsy: Neurophysiological investigations
Raffaele Dubbioso, Antonio Suppa, Marina A. J. Tijssen, Akio Ikeda
doi : 10.1111/epi.17553
Familial adult myoclonus epilepsy (FAME) also described as benign adult familial myoclonus epilepsy (BAFME) is a high-penetrant autosomal dominant condition featuring cortical myoclonus of varying frequency and occasional/rare convulsive seizures.
Familial adult myoclonus epilepsy: Neuroimaging and neuropathological findings
Anne-Fleur van Rootselaar, Sirio Cocozza, Eleonora Aronica, Pasquale Striano
doi : 10.1111/epi.17628
Familial adult myoclonus epilepsy (FAME) is characterized by cortical myoclonus and often epileptic seizures, but the pathophysiology of this condition remains uncertain. Here, we review the neuroimaging and neuropathological findings in FAME.
Differential diagnosis of familial adult myoclonic epilepsy
Betul Baykan, Silvana Franceschetti, Laura Canafoglia, Gianpiero L. Cavalleri, Roberto Michelucci, Ingrid E. Scheffer
doi : 10.1111/epi.17536
Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic–clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by pentanucleotide repeat expansions of intronic TTTCA/TTTTA in different genes. FAME should be distinguished from a range of differential diagnoses.
Current treatment options for familial adult myoclonus epilepsy
Antonietta Coppola, Raffaele Dubbioso, Claudia Cuccurullo, Laura Licchetta, Mar Carreno, Edouard Hirsch, Leonilda Bilo
doi : 10.1111/epi.17590
Familial adult myoclonus epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus, and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME.
