ライフサイエンスコーパス: myoclonic

1 spheric cortical spread, as well as rhythmic myoclonic activity.

2 consistent with the transcallosal spread of myoclonic activity.

3 assays, with increased propensity to develop myoclonic and absence-like seizures but decreased propen

4 is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absen

5 absence epilepsy (typical and atypical), and myoclonic and generalized epilepsies.

6 zures were characterized by a combination of myoclonic and tonic-clonic (GTC) seizures.

7 es of certain syndromes in which generalized myoclonic and tonic-clonic seizures are expressed.

8 st-line therapy, including infantile spasms, myoclonic-astatic epilepsy (Doose syndrome), Dravet synd

9 seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut

10 individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE).

11 racteristic of GluK1 activation) and induces myoclonic behavioral seizures and electrographic seizure

12 Thus, the processes sustaining myoclonic discharges may differ for proximal and distal

13 31 months (Parkinson's disease), 16 months (myoclonic dystonia), 14 and 24 months (cervical dystonia

14 disorders (n = 13 Parkinson's disease, n = 1 myoclonic dystonia, n = 1 spasmodic torticollis).

15 patients with Parkinson's disease, one with myoclonic dystonia, two with cervical dystonia and five

16 ts with suspected cortical myoclonus in whom myoclonic EMG bursts repeat rhythmically at high frequen

17 rral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortic

18 rst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype-phenotyp

19 (SIK1) in a series of 101 persons with early myoclonic encephalopathy, Ohtahara syndrome, and infanti

20 One patient developed myoclonic encephalopathy.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

55 Juvenile myoclonic epilepsy is a common type of idiopathic genera

56 Juvenile myoclonic epilepsy is a heritable idiopathic generalized

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

58 Juvenile myoclonic epilepsy is the most common idiopathic general

59 Juvenile myoclonic epilepsy is the most frequent idiopathic gener

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

80 Patients with juvenile myoclonic epilepsy showed increased functional connectiv

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

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

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

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

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

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

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

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

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

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

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

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

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

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

95 idiopathic generalized epilepsy and juvenile myoclonic epilepsy.

96 epsy with febrile seizures plus and juvenile myoclonic epilepsy.

97 2X was identified in a patient with juvenile myoclonic epilepsy.

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

99 king, leading to autosomal dominant juvenile myoclonic epilepsy.

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

101 so constitutes an endophenotype of juvenile myoclonic epilepsy.

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

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

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

105 effort can cause myoclonic jerks in juvenile myoclonic epilepsy.

106 ts, which causes autosomal dominant juvenile myoclonic epilepsy.

107 pathic generalized epilepsy characterized by myoclonic, generalized tonic-clonic, and in 30% of patie

108 izure threshold and the latency to the first myoclonic jerk.

109 Myoclonic jerking and seizures were prominent in the PPT

110 Fever (100% [57 of 57]), myoclonic jerks (86% [49 of 57]), ataxia (54% [29 of 54]

111 racterized by a combination of non-epileptic myoclonic jerks and dystonia.

112 eralized epilepsy syndrome, characterized by myoclonic jerks and frequently triggered by cognitive ef

113 l syndrome characterized by a combination of myoclonic jerks and mild to moderate dystonia.

114 MDA receptor antagonist, on the intensity of myoclonic jerks and the extent of cerebral ischemia-indu

115 Seizures were common and usually predated by myoclonic jerks by a number of years.

116 for CJD.SIGNIFICANCE STATEMENT Dementia and myoclonic jerks develop in individuals with Creutzfeldt-

117 n explanation how cognitive effort can cause myoclonic jerks in juvenile myoclonic epilepsy.

118 The mechanism of cerebral hypoxia-induced myoclonic jerks is not known.

119 It is characterized by predominant myoclonic jerks of upper limbs, often provoked by cognit

120 ally heterogeneous disorder characterized by myoclonic jerks often seen in combination with dystonia

121 M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mut

122 eralized epilepsy, characterized by frequent myoclonic jerks, generalized tonic-clonic seizures and,

123 include coordination and gait abnormalities, myoclonic jerks, inability to initiate movements, and sp

124 ertex spike-wave discharges in lockstep with myoclonic jerks.

125 s that coincide with convulsive seizures and myoclonic jerks.

126 h high-amplitude polyspikes in lockstep with myoclonic jerks; and Pattern 2, continuous background wi

127 She gained substantial improvement in myoclonic movements, ataxic gait and dysarthric speech a

128 eye opening or response to pain, spontaneous myoclonic movements, sluggishly reactive pupils, absent

129 The myoclonic scores for the posthypoxic rats injected with

130 eria were aged younger than 18 years, anoxic/myoclonic SE, psychogenic SE, simple partial SE, and abs

131 By 1 year most Spnb3(-/-) animals develop a myoclonic seizure disorder with significant reductions o

132 e (PTZ)-induced generalized tonic-clonic and myoclonic seizure incidence and severity.

133 pilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized c

134 age, the homozygous mutant mice all exhibit myoclonic seizures accompanied by rapid jumping and runn

135 e found that mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen

136 -THP) had a significantly lower incidence of myoclonic seizures and less EEG activity following penty

137 , but nearly all P20-22 and P30-46 mSMEI had myoclonic seizures followed by generalized seizures caus

138 All but one of these patients had similar myoclonic seizures induced by linguistic activities othe

139 Expanded phenotypes include myoclonic seizures, auditory or visual hallucinations, a

140 ents, and include tonic-clonic, absence, and myoclonic seizures, including status epilepticus.

141 tonic-clonic seizures (GTCS) and a second to myoclonic seizures.

142 or EPM1 by displaying progressive ataxia and myoclonic seizures.

143 m.8344A>G mutation and epilepsy experienced myoclonic seizures.

144 behind the role of LGI1 in susceptibility to myoclonic seizures.

145 likelihood ratio, 8.85; 95% CI, 4.87-16.08), myoclonic status epilepticus (false-positive rate, 0.05;

146 Myoclonic status epilepticus was invariably associated w

147 (3) high-amplitude polyspikes during massive myoclonic thrusts with or without a very fast running ep

148 asing the threshold dose of PTZ for onset to myoclonic twitch and face and forelimb clonus by 2- to 3

149 he RRN and vMPJ have a suppressive effect on myoclonic twitches and rhythmic leg movement.

150 Myoclonic twitches are jerky movements that occur exclus

151 inated rhythmic leg movement (locomotion) or myoclonic twitches developed in all of these cats beginn

152 spontaneous, or sensory stimulation-induced, myoclonic twitches during the 48 h observation period.

153 em [17, 18] trigger hundreds of thousands of myoclonic twitches each day [19].

154 Sensory feedback from sleep-related myoclonic twitches is thought to drive activity-dependen

155 ctive (or REM) sleep, infant mammals exhibit myoclonic twitches of skeletal muscles throughout the bo

156 e first paper of this series, we report that myoclonic twitches or coordinated rhythmic leg movement

157 Myoclonic twitches were consistently followed by neocort

158 nd, in addition, support the hypothesis that myoclonic twitches, like retinal waves, actively contrib

159 avioral indices (coordinated movements, CMs; myoclonic twitches, MTs) has been used to assess sleep-w

160 increase their activity in association with myoclonic twitches, which are indicative of active sleep

161 (1-10 mM), into the NMC block locomotion and myoclonic twitches.

162 aming brain: the jerky limb movements called myoclonic twitches.

163 ressed as brief bursts immediately following myoclonic twitches; by P12, theta oscillations are expre

164 sleep (AS), as measured by the occurrence of myoclonic twitching (MT), is the most prevalent behavior

165 switch was accompanied by sharp decreases in myoclonic twitching and equally sharp increases in spont

166 trols, caudal pontine decerebrations reduced myoclonic twitching by 76%, rostral pontine decerebratio

167 hermogenesis helps to maintain high rates of myoclonic twitching during cold exposure in infant rats.

168 Myoclonic twitching is a ubiquitous feature of infant be

169 The results support the hypothesis that myoclonic twitching is sensitive to the prevailing air t

170 ncrease their firing rates during periods of myoclonic twitching of the limbs, and a subset of these

171 In addition, myoclonic twitching was suppressed during the 30-min dep

172 of muscle atonia (with or without concurrent myoclonic twitching), indicative of REM sleep.

173 mperature, and maintained baseline levels of myoclonic twitching, a behavior commonly associated with

174 tions and altered the temporal patterning of myoclonic twitching, extreme cooling substantially decre

175 rsts of phasic motor activity in the form of myoclonic twitching, may provide conditions that are con

176 x occur in response to sensory feedback from myoclonic twitching, we hypothesized that the state-depe

177 rscapular temperature and decreased rates of myoclonic twitching.

178 most notably during periods of sleep-related myoclonic twitching.

179 pical Creutzfeldt-Jakob disease phenotype or myoclonic variant and the Heidenhain variant were linked

180 a, duration of disease prior to surgery, and myoclonic versus torsional disease phenotype had no sign