Download Epilepsy Towards the Next Decade: New Trends and Hopes in by Pasquale Striano PDF

By Pasquale Striano

A entire number of the newest wisdom at the organic bases of assorted forms of epilepsies and sleek scientific methods to their remedy. Epilepsy impacts approximately 0.5-1% of the world's inhabitants (about 50,000,000 participants) and the most target of its remedy is to put off seizures with out growing unwanted effects. regardless of a variety of advances within the remedy of epilepsy and the approval of a number of new antiepileptic medications, approximately 30% of sufferers proceed to adventure recurrent seizures that are medically, bodily, and/or socially disabling. The editor of this quantity hopes that via bridging the space among the elemental biology of epilepsy and its medical implications he may possibly spur extra examine and therapy options.​

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Additional info for Epilepsy Towards the Next Decade: New Trends and Hopes in Epileptology

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Nat Genet 31:184–189 D’Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M (2004) Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology 63:1500–1502 De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26:275–276 Delmas P, Brown DA (2005) Pathways modulating neural KCNQ/M (Kv7) potassium channels.

2011). Lgi1 Protein Function The function of LGI1 and the mechanisms of LGI1-related epilepsy remain unclear. C42R Ottman et al. C42G Berkovic et al. C46R Gu et al. (2002); Pizzuti et al. C46F Lee et al. I82T Sadleir et al. A110D Ottman et al. 329delC Exon 3 Truncation Hedera et al. 359-3C>A Intron 3 Truncation Kalachikov et al. I122K Striano et al. I122T Di Bonaventura et al. E123K Di Bonaventura et al. Asn126del de Bellescize et al. R136W Di Bonaventura et al. (2011); Michelucci et al. (2007) Genomic deletion Exon 1–4 Deletion Fanciulli et al.

Alternatively, KCNQ2 and KCNQ3 channels, when mutated, might be replaced by other K+ channels that become functional after the first months of life. Transgenic and knock-in BFNS mice have been generated. Transgenic mice expressing a dominant negative KCNQ2 mutant (Peters et al. 2005) show spontaneous partial and generalized tonic-clonic seizures, but also pronounced hyperactivity and cell loss in the hippocampus, with impaired hippocampus-related memory, which are not consistent with the typical BNFS human phenotype.

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