ライフサイエンスコーパス: Dravet

1 Dravet inhibitory neurons showed deficits in sodium curr

2 Dravet syndrome (also called severe myoclonic epilepsy o

3 Dravet syndrome (DS) is an infantile-onset intractable e

4 Dravet syndrome is a catastrophic childhood epilepsy wit

5 Dravet syndrome is a catastrophic pediatric epilepsy wit

6 Dravet syndrome is a severe infantile onset epileptic en

7 Dravet syndrome is an epilepsy syndrome of infantile ons

8 Dravet syndrome is an infant-onset epileptic encephalopa

9 Dravet Syndrome is an intractable form of childhood epil

10 Dravet syndrome is the prototype of SCN1A-mutation assoc

11 Dravet syndrome, an epileptic encephalopathy affecting c

12 ural variation was found in 60% of the adult Dravet patients tested, including one post-mortem case w

13 lepsy syndromes are mild and remit with age, Dravet syndrome has a more severe clinical course with r

14 epsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infanc

15 zed epilepsy with febrile seizures plus, and Dravet syndrome or severe myoclonic epilepsy in infancy.

16 s in the brain sodium channel Na(V)1.1 cause Dravet syndrome (DS), a pharmacoresistant infantile-onse

17 voltage-gated sodium channel Na(V)1.1 causes Dravet's syndrome, a childhood neuropsychiatric disorder

18 1.1 truncation mutation (R1407X) that causes Dravet syndrome in humans, and examined their survival,

19 We then differentiated Dravet-Syndrome and control iPSCs into telencephalic exc

20 c seizures and the epileptic encephalopathy, Dravet syndrome.

21 benzodiazepines are a first-line therapy for Dravet syndrome, they are limited by their ability to on

22 cation, to potential clinical treatments for Dravet syndrome.

23 In the safety group, 33 (20%) patients had Dravet syndrome and 31 (19%) patients had Lennox-Gastaut

24 ion in a scn1lab mutant recapitulating human Dravet syndrome.

25 , nest building, and open field behaviors in Dravet mice.

26 ve deficit and autism-spectrum behaviours in Dravet's syndrome are poorly understood.

27 u reduction may be of therapeutic benefit in Dravet syndrome and other intractable genetic epilepsies

28 fficacy of a novel sodium channel blocker in Dravet syndrome and suggest a potential mechanism involv

29 convulsive behavioural movements observed in Dravet syndrome.

30 t with severe myoclonic epilepsy of infancy (Dravet syndrome).

31 dings, we treated five medically intractable Dravet syndrome patients with a clinically-approved sero

32 ne particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typica

33 obe epilepsy, and a mouse model of monogenic Dravet (SCN1A) disease.

34 B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation.

35 was no histopathological hallmark feature of Dravet syndrome in this series.

36 Features of Dravet syndrome in adulthood include multiple seizure ty

37 se model that recapitulates many features of Dravet syndrome, including spontaneous seizures, prematu

38 erneurons in the neocortex and hippocampi of Dravet adult post-mortem cases.

39 s in a well-validated mouse genetic model of Dravet syndrome (DS), a severe childhood epilepsy disord

40 We studied a mouse model of Dravet syndrome, a severe childhood epilepsy caused by m

41 ence of SGE-516 activity in a mouse model of Dravet syndrome, and supports further investigation of n

42 ever, in contrast to the Scn1a(+/-) model of Dravet syndrome, we found no measurable differences in s

43 Scn1b null mice are models of Dravet Syndrome, a severe pediatric encephalopathy.

44 Tau ablation prevented the high mortality of Dravet mice and reduced the frequency of spontaneous and

45 ecapitulate the severe epilepsy phenotype of Dravet syndrome and are an accepted animal model.

46 ns had clinical features resembling those of Dravet syndrome with progression toward atypical absence

47 evere myoclonic epilepsy of infancy (SMEI or Dravet's Syndrome), which includes severe, intractable e

48 vere myoclonic epilepsy of infancy (SMEI) or Dravet syndrome.

49 The incidence of mutation-positive Dravet syndrome is at least 1:40 900 UK births.

50 ified 241 cases with SCN1A mutation-positive Dravet syndrome, 207 of which were UK-based.

51 myoclonic-astatic epilepsy (Doose syndrome), Dravet syndrome, and status epilepticus (including FIRES

52 Our study provides evidence that Dravet syndrome is at least in part an epileptic encepha

53 .1 mutation and supports the hypothesis that Dravet Syndrome arises from defective inhibitory neurons

54 The Dravet syndrome is a complex childhood epilepsy disorder

55 treatment of drug-resistant seizures in the Dravet syndrome.

56 igned 120 children and young adults with the Dravet syndrome and drug-resistant seizures to receive e

57 Among patients with the Dravet syndrome, cannabidiol resulted in a greater reduc

58 m of seizures types from febrile seizures to Dravet syndrome.

59 were rescued by a Nav1.1 transgene, whereas Dravet excitatory neurons were normal.

60 Twenty-two adults with Dravet syndrome, 10 female, were included, median age 39

61 -mortem material from three adult cases with Dravet syndrome, in comparison with controls and a range

62 including three adult post-mortem cases with Dravet syndrome.

63 cted data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analyse

64 Here we report the first patient with Dravet syndrome associated with a recessive mutation in

65 A gene have been identified in patients with Dravet's syndrome (severe myoclonic epilepsy of infancy)

66 p.S1328P) identified in a pair of twins with Dravet Syndrome and generated iPSC-derived neurons from