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1 SMEI is most often associated with premature truncations
3 mutations (A1685V and V1353L) and L986F, an SMEI-associated allele, exhibited complete loss of funct
4 epilepsy and demonstrate that both GEFS+ and SMEI can be associated with nonfunctional SCN1A alleles.
5 from those previously observed for GEFS+ and SMEI, suggesting possible, but complex, genotype-phenoty
6 nnels in Purkinje neurons of mutant mice and SMEI patients may be sufficient to cause their ataxia an
7 e examined the functional properties of five SMEI mutations by using whole-cell patch-clamp analysis
8 a(V)1.1 channels provide a genetic model for SMEI, exhibiting severe seizures and premature death on
9 a range of SCN1A functional abnormalities in SMEI, including gain-of-function defects that were not a
10 ular mechanisms similar to those involved in SMEI, we characterized eight ICEGTC missense mutations b
12 transition for susceptibility to seizures in SMEI, demonstrate that body temperature elevation alone
14 cause severe myoclonic epilepsy in infancy (SMEI), an infantile-onset epileptic encephalopathy chara
15 cause severe myoclonic epilepsy in infancy (SMEI), which is accompanied by severe ataxia that contri
18 cause severe myoclonic epilepsy of infancy (SMEI or Dravet's Syndrome), which includes severe, intra
24 close correspondence between human and mouse SMEI in the striking temperature and age dependence of s
26 liorate seizure severity in a mouse model of SMEI, we generated Scn1a(+/-); Scn8a(med-jo/+) double he
27 nal properties of four GEFS+ alleles and one SMEI allele using whole-cell patch-clamp analysis of het
29 ontruncating SCN1A mutations associated with SMEI have impaired cell surface expression and that some
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