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1            Here we report that knock-in of a GEFS+ SCN1A mutation (K1270T) into the Drosophila sodium
2 ABAergic interneurons in the brains of adult GEFS+ flies reveal a novel cellular mechanism underlying
3 ash droughts, which is higher than ECMWF and GEFS models in most cases, as demonstrated for major eve
4 he clinical variability observed in SMEI and GEFS+.
5                                   Borderline GEFS+ families shared many characteristics of classical
6 th classical GEFS+; families with borderline GEFS+; families with unclassified epilepsy; and families
7  familial epilepsy and demonstrate that both GEFS+ and SMEI can be associated with nonfunctional SCN1
8 orylation and its association with the cdc42 GEFS, DOCK180 and alpha/betaPIX.
9 ies shared many characteristics of classical GEFS+ families-such as prominent febrile seizures plus a
10 pes were identified: families with classical GEFS+; families with borderline GEFS+; families with unc
11 (K289M)) in an inheritable form of epilepsy (GEFS+, generalized epilepsy with febrile seizures plus)
12  distinct from those previously observed for GEFS+ and SMEI, suggesting possible, but complex, genoty
13 e examined the functional properties of four GEFS+ alleles and one SMEI allele using whole-cell patch
14 fers a deleterious gain-of-function in human GEFS+ patients.
15 uronal excitability, we introduced the human GEFS+ mutation SCN1A-R1648H into the orthologous mouse g
16 thic generalised epilepsies predominating in GEFS+) and double the prevalence of migraine.
17 This work has confirmed the role of SCN1A in GEFS+, by identification of a novel mutation in a previo
18 ation) may contribute to febrile seizures in GEFS+ and perhaps normal individuals.
19                               Inheritance of GEFS+ is dominant, but the underlying cellular mechanism
20 ) dynamic models, the postprocessed ECMWF or GEFS subseasonal forecasts by RISE-UNet, or ensemble mod
21                           Unlike three other GEFS+ alleles that we recently characterized, neither R1
22                       In contrast, two other GEFS+ mutations (A1685V and V1353L) and L986F, an SMEI-a
23 ralized epilepsy with febrile seizures plus (GEFS+ type 2), severe myoclonic epilepsy of infancy (SME
24 ralized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).
25 ralized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).
26 ralized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy.
27 ralized epilepsy with febrile seizures plus (GEFS+) associated with C-terminal mutations in other NaV
28 ralized epilepsy with febrile seizures plus (GEFS+) have been identified previously in the SCN1A gene
29 Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant familial epilepsy syndro
30 ralized epilepsy with febrile seizures plus (GEFS+) is caused by missense mutations in NaV1.1 channel
31 ralised epilepsy with febrile seizures plus (GEFS+) is the most studied familial epilepsy syndrome.
32 genetic epilepsy with febrile seizures plus (GEFS+) spectrum disorders in humans, and Scn1b-null mice
33 ralized epilepsy with febrile seizures plus (GEFS+) type 2.
34 ralized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilep
35 ralized epilepsy with febrile seizures plus (GEFS+), created a loss of function with homozygous expre
36 ralized epilepsy with febrile seizures plus (GEFS+),(7) severe myoclonic epilepsy of infancy, and fam
37 genetic epilepsy with febrile seizures plus (GEFS+).
38 ralized epilepsy with febrile seizures plus (GEFS+).
39 ralized epilepsy with febrile seizures plus (GEFS+).
40 genetic epilepsy with febrile seizures plus (GEFS+).
41 Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)).
42 l excitability, in contrast to most previous GEFS+ sodium channel mutations, which have changes predi
43                      One previously reported GEFS+ mutation (I1656M) and an additional novel allele (
44 channel genes can produce the same syndrome, GEFS+, while individuals with the same allele can experi
45 (ECMWF) and Global Ensemble Forecast System (GEFS) dynamic models, the postprocessed ECMWF or GEFS su
46 d persistent sodium current exhibited by the GEFS+ mutant R1648H.
47 ent current similar to that observed for the GEFS+ mutant R1648H.
48 ypothesize that a likely explanation for the GEFS+ phenotype is a dominant-negative suppression of wi
49 e seizures, intermediate impairment leads to GEFS+ epilepsy, and severe or complete loss of function
50 a2gamma2L(K289M)) GABA(A) receptor linked to GEFS+.
51 with a clinical presentation consistent with GEFS+.
52                           Most families with GEFS+ have no identified causal mutation, and so predict
53 ndependent, multi-generational families with GEFS+.
54 ation W1204R was identified in a family with GEFS+.