ライフサイエンスコーパス: myoclonic epilepsy

1 optic atrophy, and recent-onset intractable myoclonic epilepsy.

2 ts, which causes autosomal dominant juvenile myoclonic epilepsy.

3 ities in the medial frontal lobe in juvenile myoclonic epilepsy.

4 effort can cause myoclonic jerks in juvenile myoclonic epilepsy.

5 idiopathic generalized epilepsy and juvenile myoclonic epilepsy.

6 Lafora disease, a fatal form of progressive myoclonic epilepsy.

7 epsy with febrile seizures plus and juvenile myoclonic epilepsy.

8 king, leading to autosomal dominant juvenile myoclonic epilepsy.

9 cht-Lundborg Syndrome, a progressive form of myoclonic epilepsy.

10 2X was identified in a patient with juvenile myoclonic epilepsy.

11 so constitutes an endophenotype of juvenile myoclonic epilepsy.

12 ologues are related to the cause of juvenile myoclonic epilepsy.

13 Twenty patients with juvenile myoclonic epilepsy, 10 patients each with childhood abse

14 paraplegia (8q24), and benign adult familial myoclonic epilepsy (8q23.3-q24.1).

15 epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convuls

16 auses an autosomal dominant form of juvenile myoclonic epilepsy (ADJME).

17 ortical regions in 30 patients with juvenile myoclonic epilepsy and 26 healthy controls.

18 ings affected by a progressive disorder with myoclonic epilepsy and dementia.

19 in a cohort of 28 participants with juvenile myoclonic epilepsy and detected changes in an anterior t

20 RNA(Lys) A8344G mutation associated with the myoclonic epilepsy and ragged red fiber (MERRF) encephal

21 (MELAS); the tRNA(Lys) 8344 mutation causing myoclonic epilepsy and ragged red fibers (MERRF); and th

22 samples from the proband revealed the A8344G myoclonic epilepsy and ragged-red fiber (MERRF) mutation

23 Juvenile myoclonic epilepsy and the EEG trait segregated as an au

24 vidence that a gene responsible for juvenile myoclonic epilepsy and the subclinical, 3.5- to 6.0-Hz,

25 has been reported in patients with juvenile myoclonic epilepsy and their unaffected siblings.

26 Individuals with autosomal dominant juvenile myoclonic epilepsy are heterozygous for a GABA(A) recept

27 nign familial neonatal convulsions, juvenile myoclonic epilepsy, as well as benign epilepsy with cent

28 sion provides not only a candidate for human myoclonic epilepsy but also insights into the disease et

29 ein Jerky, previously implicated in juvenile myoclonic epilepsy development.

30 sychological and imaging studies in juvenile myoclonic epilepsy have consistently pointed towards sub

31 mogenous patient populations (PAX6, juvenile myoclonic epilepsy) have strengthened the link between g

32 e-gated sodium channel Na(V)1.1 cause severe myoclonic epilepsy in infancy (SMEI), an infantile-onset

33 mutations of Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI), which is accompani

34 lus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).

35 mutations in Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI).

36 seizures plus, and Dravet syndrome or severe myoclonic epilepsy in infancy.

37 ion of the human Na(V) SCN1A, such as severe myoclonic epilepsy in infants or intractable childhood e

38 Juvenile myoclonic epilepsy is a common type of idiopathic genera

39 Juvenile myoclonic epilepsy is a heritable idiopathic generalized

40 A form of autosomal dominant juvenile myoclonic epilepsy is caused by a nonconservative missen

41 Juvenile myoclonic epilepsy is the most common idiopathic general

42 Juvenile myoclonic epilepsy is the most frequent idiopathic gener

43 Lafora disease (LD), a fatal genetic form of myoclonic epilepsy, is characterized by abnormally high

44 The implication is that juvenile myoclonic epilepsy (JME) does not exist as the sole phen

45 Adults with juvenile myoclonic epilepsy (JME) have subtle brain structural ab

46 Juvenile myoclonic epilepsy (JME) is a common form of generalized

47 Juvenile myoclonic epilepsy (JME) is a distinctive and common var

48 er, 40% of individual patients with juvenile myoclonic epilepsy (JME), a syndrome of IGE in adolescen

49 The IGEs that we studied included juvenile myoclonic epilepsy (JME), epilepsy with only generalized

50 The IGEs included juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE

51 i were segregating in subjects with juvenile myoclonic epilepsy (JME), one predisposing to generalize

52 g childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), ge

53 markers were genetically linked to juvenile myoclonic epilepsy (JME); this was confirmed in a later

54 t least one genetic disease, the progressive myoclonic epilepsy Lafora disease, excessive phosphoryla

55 ts with two forms of IGE, including juvenile myoclonic epilepsy (n = 93) and absence epilepsy (n = 25

56 ft mutation in SCN1A, consistent with severe myoclonic epilepsy of infancy (Dravet syndrome).

57 of-function mutations in NaV1.1 cause severe myoclonic epilepsy of infancy (SMEI or Dravet's Syndrome

58 febrile seizures plus (GEFS+ type 2), severe myoclonic epilepsy of infancy (SMEI) and related conditi

59 a(V)1.1, are the most common cause of severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome.

60 ith febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).

61 ilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI).

62 ith febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).

63 itis pigmentosa, cystic fibrosis, and severe myoclonic epilepsy of infancy and showed that the majori

64 may contribute to sleep disorders in severe myoclonic epilepsy of infancy patients.

65 Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most severe

66 d in patients with Dravet's syndrome (severe myoclonic epilepsy of infancy), making this the most com

67 le-cell pertussis vaccine were due to severe myoclonic epilepsy of infancy, a severe seizure disorder

68 mutations in Na(V)1.1 channels cause severe myoclonic epilepsy of infancy, an intractable childhood

69 ith febrile seizures plus (GEFS+),(7) severe myoclonic epilepsy of infancy, and familial hemiplegic m

70 ith febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy.

71 channels is the underlying cause for severe myoclonic epilepsy of infancy; the circadian deficits th

72 he exclusion of the locus for familial adult myoclonic epilepsy on chromosome 8q23.3-q24 from linkage

73 nd in eight out of 20 patients with juvenile myoclonic epilepsy, one out of 10 patients with childhoo

74 whom were clinically affected with juvenile myoclonic epilepsy or presented with subclinical electro

75 characterized by infantile-onset progressive myoclonic epilepsy (PME), vision loss, cognitive and mot

76 Lafora disease (LD) is a progressive myoclonic epilepsy resulting in severe neurodegeneration

77 Patients with juvenile myoclonic epilepsy showed increased functional connectiv

78 an 40) of 11 of those patients with juvenile myoclonic epilepsy (six female; age range 22-54 years, m

79 ited neurodegenerative disorder, progressive myoclonic epilepsy type 1 (EPM1).

80 halographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in yo

81 e A8344G mutation associated with the MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome exhi

82 tion G611A), which is associated with MERRF (myoclonic epilepsy with ragged red fibers).

83 ound in muscle from patients with the MELAS, myoclonic epilepsy with ragged red fibers, and chronic p

84 ted in vitro into mitochondria isolated from myoclonic epilepsy with ragged-red fiber cells if provid

85 d stroke-like episodes (A3243G MELAS) or the myoclonic epilepsy with ragged-red fibres (A8344G MERRF)

86 n ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disa