نتایج جستجو برای: scn1a mutations
تعداد نتایج: 173129 فیلتر نتایج به سال:
We derive anomaly constraints for Abelian and non-Abelian discrete symmetries using the path integral approach. We survey anomalies of discrete symmetries in heterotic orbifolds and find a new relation between such anomalies and the socalled ‘anomalous’ U(1).
We formulate the effective field theory of a D-particle on orbifolds of T 4 by a cyclic group as a gauge theory in a V -bundle over the dual orbifold. We argue that this theory admits Fayet-Iliopoulos terms analogous to those present in the case of noncompact orbifolds. In the n = 2 case, we present some evidence that turning on such terms resolves the orbifold singularities and may lead to a K...
Voltage-gated sodium channelopathies underlie many excitability disorders. Genes SCN1A, SCN2A and SCN9A, which encode pore-forming alpha-subunits Na(V)1.1, Na(V)1.2 and Na(V)1.7, are clustered on human chromosome 2, and mutations in these genes have been shown to underlie epilepsy, migraine, and somatic pain disorders. SCN3A, the gene which encodes Na(V)1.3, is part of this cluster, but until r...
Mutations in three voltage-gated sodium channel genes, SCN1A, SCN2A, and SCN1B, and two GABAA receptor subunit genes, GABRG2 and GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+). A novel mutation, R859C, in the Nav1.1 sodium channel was identified in a four-generation, 33-member Caucasian family with a clinical presentation consistent with GEF...
Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+) have been identified previously in the SCN1A gene encoding the alpha subunit of the Na(v)1.1 voltage-gated sodium channel (Escayg et al., 2000). Both mutations change conserved residues in putative voltage-sensing S4 segments, T875M in domain II and R1648H in domain IV. Each mutation was cloned into the orthologous...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید