戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (left1)

通し番号をクリックするとPubMedの該当ページを表示します
1                                              Dravet inhibitory neurons showed deficits in sodium curr
2                                              Dravet syndrome (also called severe myoclonic epilepsy o
3                                              Dravet syndrome (DS) is a catastrophic developmental and
4                                              Dravet syndrome (DS) is a devastating early-onset refrac
5                                              Dravet syndrome (DS) is a form of epilepsy with a high i
6                                              Dravet syndrome (DS) is a neurodevelopmental disorder ch
7                                              Dravet syndrome (DS) is a neurodevelopmental disorder du
8                                              Dravet syndrome (DS) is a severe developmental epileptic
9                                              Dravet syndrome (DS) is a severe early-onset epilepsy as
10                                              Dravet syndrome (DS) is a severe form of epilepsy arisin
11                                              Dravet Syndrome (DS) is a severe neurodevelopmental diso
12                                              Dravet syndrome (DS) is an epileptic encephalopathy that
13                                              Dravet syndrome (DS) is an infantile-onset intractable e
14                                              Dravet syndrome (DS) is one of the most severe childhood
15                                              Dravet syndrome (DS), an intractable childhood epileptic
16                                              Dravet syndrome is a catastrophic childhood epilepsy wit
17                                              Dravet syndrome is a catastrophic pediatric epilepsy wit
18                                              Dravet syndrome is a rare, treatment-resistant developme
19                                              Dravet Syndrome is a severe childhood epileptic disorder
20                                              Dravet syndrome is a severe epileptic encephalopathy cau
21                                              Dravet syndrome is a severe infantile onset epileptic en
22                                              Dravet syndrome is an archetypal rare severe epilepsy, c
23                                              Dravet syndrome is an epilepsy syndrome of infantile ons
24                                              Dravet syndrome is an infant-onset epileptic encephalopa
25                                              Dravet syndrome is an intractable developmental and epil
26                                              Dravet Syndrome is an intractable form of childhood epil
27                                              Dravet syndrome is the prototype of SCN1A-mutation assoc
28                                              Dravet syndrome mice (Scn1a(+/-) ) demonstrate a marked
29                                              Dravet syndrome parvalbumin-positive interneuron sodium
30                                              Dravet syndrome, an epileptic encephalopathy affecting c
31 logical level rescued seizures also in adult Dravet syndrome mice (P90) after months of repetitive at
32 ate the risk of premature mortality in adult Dravet syndrome survivors.
33 ural variation was found in 60% of the adult Dravet patients tested, including one post-mortem case w
34 lepsy syndromes are mild and remit with age, Dravet syndrome has a more severe clinical course with r
35 , such as autism spectrum disorder (ASD) and Dravet, Fragile X, Prader-Willi, Turner, and Williams sy
36  in mouse models of SCN8A encephalopathy and Dravet syndrome.
37 ional studies of photosensitive epilepsy and Dravet syndrome.
38  seizures associated with Lennox-Gastaut and Dravet syndromes but appears not yet to have been establ
39 epsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infanc
40 zed epilepsy with febrile seizures plus, and Dravet syndrome or severe myoclonic epilepsy in infancy.
41 for treatment of Lennox-Gastaut syndrome and Dravet syndrome, two severe childhood-onset epilepsies,
42                         Patients affected by Dravet syndrome and treated with Stiripentol had a lower
43 ptic drug used to treat children affected by Dravet syndrome, possibly by inhibiting neuronal lactate
44 s in the brain sodium channel Na(V)1.1 cause Dravet syndrome (DS), a pharmacoresistant infantile-onse
45 voltage-gated sodium channel Na(V)1.1 causes Dravet's syndrome, a childhood neuropsychiatric disorder
46 1.1 truncation mutation (R1407X) that causes Dravet syndrome in humans, and examined their survival,
47                       We then differentiated Dravet-Syndrome and control iPSCs into telencephalic exc
48 nimal models of the epileptic encephalopathy Dravet syndrome (DS), including the one employed in our
49 ice, a model of the epileptic encephalopathy Dravet syndrome, in which patients experience spontaneou
50 c seizures and the epileptic encephalopathy, Dravet syndrome.
51 -function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated
52 perature-induced seizures in male and female Dravet syndrome (Scn1a+/-) mice, a neurodevelopmental di
53 pha(2) is a potential therapeutic option for Dravet syndrome.
54 benzodiazepines are a first-line therapy for Dravet syndrome, they are limited by their ability to on
55 potential target for future gene therapy for Dravet Syndrome.
56 cation, to potential clinical treatments for Dravet syndrome.
57 ised genomic background to generate the full Dravet syndrome phenotype, whilst genomic resilience may
58   In the safety group, 33 (20%) patients had Dravet syndrome and 31 (19%) patients had Lennox-Gastaut
59 panel of drugs in a zebrafish model of human Dravet syndrome, we show that even drugs with related me
60 ion in a scn1lab mutant recapitulating human Dravet syndrome.
61                                           In Dravet syndrome, fenfluramine provided significantly gre
62 luding those associated with astrogliosis in Dravet syndrome mice, that, accordingly, were rescued by
63 , nest building, and open field behaviors in Dravet mice.
64 ve deficit and autism-spectrum behaviours in Dravet's syndrome are poorly understood.
65 u reduction may be of therapeutic benefit in Dravet syndrome and other intractable genetic epilepsies
66 fficacy of a novel sodium channel blocker in Dravet syndrome and suggest a potential mechanism involv
67 nce was lower, and for longevity, higher, in Dravet syndrome than in epilepsy controls.
68 convulsive behavioural movements observed in Dravet syndrome.
69 to cortical pyramidal neurons was reduced in Dravet syndrome mice, suggesting decreased GABA release
70 n may contribute to transition to seizure in Dravet syndrome.
71 development for the treatment of seizures in Dravet syndrome and Lennox-Gastaut syndrome.
72 state during temperature-induced seizures in Dravet syndrome.SIGNIFICANCE STATEMENT Epilepsy is a com
73  current density and GABAergic signalling in Dravet syndrome parvalbumin-positive interneurons.
74 epileptic encephalopathies (DEEs), including Dravet syndrome.
75 tal and epileptic encephalopathies including Dravet syndrome with common SCN1A variants being risk fa
76 pmental epileptic encephalopathies including Dravet syndrome.
77  for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epile
78 t with severe myoclonic epilepsy of infancy (Dravet syndrome).
79 dings, we treated five medically intractable Dravet syndrome patients with a clinically-approved sero
80 ibility to seizures, even in the intractable Dravet syndrome epilepsy model.
81 ne particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typica
82 obe epilepsy, and a mouse model of monogenic Dravet (SCN1A) disease.
83 sies with a pathogenic SCN1A variant and non-Dravet syndrome phenotype.
84 B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation.
85 nduce two of the most severe dysfunctions of Dravet Syndrome: Epilepsy and cognitive deficit.
86 was no histopathological hallmark feature of Dravet syndrome in this series.
87                                  Features of Dravet syndrome in adulthood include multiple seizure ty
88 se model that recapitulates many features of Dravet syndrome, including spontaneous seizures, prematu
89 erneurons in the neocortex and hippocampi of Dravet adult post-mortem cases.
90 s in a well-validated mouse genetic model of Dravet syndrome (DS), a severe childhood epilepsy disord
91 ated to be seizure resistant in the model of Dravet syndrome (Scn1a(+/-) ), and in which the alpha(2)
92  calcium imaging in an experimental model of Dravet syndrome (Scn1a+/- mice)-a severe neurodevelopmen
93 hibitory neural activity in a mouse model of Dravet syndrome disinhibited RTN chemoreceptors and dest
94 Scn1a (+/-) haploinsufficient mouse model of Dravet syndrome was also treated.
95                  We studied a mouse model of Dravet syndrome, a severe childhood epilepsy caused by m
96 nd autism-like behaviors in a mouse model of Dravet syndrome, a severe epileptic encephalopathy of ea
97 ence of SGE-516 activity in a mouse model of Dravet syndrome, and supports further investigation of n
98 ever, in contrast to the Scn1a(+/-) model of Dravet syndrome, we found no measurable differences in s
99 n male and female mice in a genetic model of Dravet syndrome.
100 ilepsy and in mice lacking Scn1a, a model of Dravet syndrome.
101 pected death in epilepsy in a mouse model of Dravet syndrome.
102 in brain slices from genetic mouse models of Dravet syndrome (DS) reveal reduced sodium current and e
103 ive seizures in patients and mouse models of Dravet syndrome (DS), a developmental and epileptic ence
104                Scn1b null mice are models of Dravet Syndrome, a severe pediatric encephalopathy.
105 Tau ablation prevented the high mortality of Dravet mice and reduced the frequency of spontaneous and
106 ecapitulate the severe epilepsy phenotype of Dravet syndrome and are an accepted animal model.
107                                In studies of Dravet syndrome, a devastating genetic disorder with fea
108 reatment with Scn8a ASO extended survival of Dravet syndrome mice from 3 weeks to >5 months.
109 ns had clinical features resembling those of Dravet syndrome with progression toward atypical absence
110 n with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more sever
111 evere myoclonic epilepsy of infancy (SMEI or Dravet's Syndrome), which includes severe, intractable e
112 vere myoclonic epilepsy of infancy (SMEI) or Dravet syndrome.
113           The incidence of mutation-positive Dravet syndrome is at least 1:40 900 UK births.
114 ified 241 cases with SCN1A mutation-positive Dravet syndrome, 207 of which were UK-based.
115            We then studied Scn1a (R1407X/+) (Dravet syndrome; DS) and Scn8a (N1768D/+) (D/+) mice of
116              In 34 adults with SCN1A-related Dravet syndrome, we show additional genomic variation be
117 y that is far more severe than typical SCN1A Dravet syndrome.
118                                    Scn1a +/- Dravet syndrome and wild-type mice received a single int
119 gets splicing of SCN1A exon 20N, in Scn1a+/- Dravet syndrome mouse brain.
120 myoclonic-astatic epilepsy (Doose syndrome), Dravet syndrome, and status epilepticus (including FIRES
121 y syndromes such as Lennox-Gastaut syndrome, Dravet syndrome and infantile spasms with intellectual d
122 tment of infantile epileptic spasm syndrome, Dravet syndrome, and Lennox-Gastaut syndrome, with a foc
123             Our study provides evidence that Dravet syndrome is at least in part an epileptic encepha
124 .1 mutation and supports the hypothesis that Dravet Syndrome arises from defective inhibitory neurons
125                                          The Dravet syndrome is a complex childhood epilepsy disorder
126  treatment of drug-resistant seizures in the Dravet syndrome.
127 igned 120 children and young adults with the Dravet syndrome and drug-resistant seizures to receive e
128                      Among patients with the Dravet syndrome, cannabidiol resulted in a greater reduc
129 sociated with gain of function, different to Dravet syndrome variants (odds ratio = 17.8; confidence
130                    SCN1B is a gene linked to Dravet syndrome and other developmental epileptic enceph
131                     Findings were related to Dravet syndrome and familial hemiplegic migraine type 3
132 m of seizures types from febrile seizures to Dravet syndrome.
133  of Nav1.1 as a successful strategy to treat Dravet syndrome.
134                   We show that, in untreated Dravet syndrome mice, intrinsic cortical pyramidal neuro
135  were rescued by a Nav1.1 transgene, whereas Dravet excitatory neurons were normal.
136                       Twenty-two adults with Dravet syndrome, 10 female, were included, median age 39
137 , we enrolled children and young adults with Dravet syndrome.
138 ounteract brain dysfunctions associated with Dravet syndrome and that overall cerebral TAU reduction
139 -mortem material from three adult cases with Dravet syndrome, in comparison with controls and a range
140 including three adult post-mortem cases with Dravet syndrome.
141 cted data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analyse
142        Here we report the first patient with Dravet syndrome associated with a recessive mutation in
143 rtant new treatment option for patients with Dravet syndrome.
144  and safety of fenfluramine in patients with Dravet syndrome.
145 A gene have been identified in patients with Dravet's syndrome (severe myoclonic epilepsy of infancy)
146 p.S1328P) identified in a pair of twins with Dravet Syndrome and generated iPSC-derived neurons from

 
Page Top