ライフサイエンスコーパス: myoclonic

1 The very young group showed more myoclonic (36.8% vs 3.6%; p = 0.005) and hypomotor featu

2 eralised-onset seizures (tonic-clonic 99.6%; myoclonic 38.8%; absence 37.2%).

3 awareness (1/12), (atypical) absence (2/12), myoclonic (5/12) and generalized tonic-clonic (1/12) or

4 e types, including myoclonic-atonic, atonic, myoclonic, absence, and generalised tonic-clonic seizure

5 eptic spasms, myoclonic-atonic seizures, and myoclonic absences.

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

7 consistent with the transcallosal spread of myoclonic activity.

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

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

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

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

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

13 lepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures.

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

15 ng in Drosophila will help solve undiagnosed myoclonic atonic epilepsy or developmental and epileptic

16 function and the disease phenotypes, such as myoclonic atonic epilepsy versus developmental delay, in

17 and neurodevelopmental disorders, including myoclonic atonic epilepsy, childhood absence epilepsy, a

18 pmental and epileptic encephalopathy subtype myoclonic atonic epilepsy.

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

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

21 Epilepsy with myoclonic-atonic seizures is a childhood-onset epilepsy

22 seizure subtypes, such as epileptic spasms, myoclonic-atonic seizures, and myoclonic absences.

23 on of the distinct features of epilepsy with myoclonic-atonic seizures, combined with advances in mol

24 03) and a phenotype related to epilepsy with myoclonic-atonic seizures.

25 rised by a range of seizure types, including myoclonic-atonic, atonic, myoclonic, absence, and genera

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

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

28 31 months (Parkinson's disease), 16 months (myoclonic dystonia), 14 and 24 months (cervical dystonia

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

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

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

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

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

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

35 One patient developed myoclonic encephalopathy.

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

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

38 al data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium.

39 Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical m

40 ephalography (MEG) from people with juvenile myoclonic epilepsy (JME) and healthy controls.

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

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

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

44 Juvenile myoclonic epilepsy (JME) is a common idiopathic generali

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

46 Juvenile myoclonic epilepsy (JME) is associated with cortical thi

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

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

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

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

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

52 rm of inherited epilepsy in humans, juvenile myoclonic epilepsy (JME).

53 ssive myoclonic epilepsy (PME) from juvenile myoclonic epilepsy (JME).

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

55 was confirmed only in patients with juvenile myoclonic epilepsy (JME; IPTW-adjusted HR, 0.47; 95% CI,

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

57 MRI-negative epilepsies, and (3) progressive myoclonic epilepsy (PME) from juvenile myoclonic epileps

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

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

60 and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare lysosomal st

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

62 neurodegenerative disorder characterized by myoclonic epilepsy and cognitive deficits.

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

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

65 pilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-c

66 sent various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with

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

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

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

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

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

72 pe and positioning in patients with juvenile myoclonic epilepsy and their siblings, which are associa

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

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

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

76 Infant myoclonic epilepsy developed in another child, with spon

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

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

79 sial, and functional MRI studies in juvenile myoclonic epilepsy have not tested hippocampal activatio

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

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

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

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

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

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

86 Juvenile myoclonic epilepsy is a common type of idiopathic genera

87 Juvenile myoclonic epilepsy is a heritable idiopathic generalized

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

89 Juvenile myoclonic epilepsy is the most common genetic generalize

90 Juvenile myoclonic epilepsy is the most common idiopathic general

91 Juvenile myoclonic epilepsy is the most frequent idiopathic gener

92 the fatal childhood dementia and progressive myoclonic epilepsy known as Lafora disease (LD).

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

94 h presents within the first 3 years of life; myoclonic epilepsy myopathy sensory ataxia; ataxia neuro

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

113 along the hippocampal long axis in juvenile myoclonic epilepsy patients with and without malrotation

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

115 Patients with juvenile myoclonic epilepsy showed increased functional connectiv

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

117 The patient was suffering from myoclonic epilepsy with hypotonia and severe motor disab

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

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

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

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

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

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

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

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

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

127 re and function in 37 patients with juvenile myoclonic epilepsy, 16 unaffected siblings and 20 health

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

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

130 al motor phenomena, from reflex myoclonus to myoclonic epilepsy, caused by abnormal sensorimotor cort

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

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

133 y been reported in patients with progressive myoclonic epilepsy, our study indicates that the clinica

134 nstrued as a novel endophenotype of juvenile myoclonic epilepsy.

135 idiopathic generalized epilepsy and juvenile myoclonic epilepsy.

136 epsy with febrile seizures plus and juvenile myoclonic epilepsy.

137 2X was identified in a patient with juvenile myoclonic epilepsy.

138 cerebellar ataxia, spasticity, dystonia and myoclonic epilepsy.

139 of spinocerebellar ataxia and familial adult myoclonic epilepsy.

140 ts, which causes autosomal dominant juvenile myoclonic epilepsy.

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

142 king, leading to autosomal dominant juvenile myoclonic epilepsy.

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

144 so constitutes an endophenotype of juvenile myoclonic epilepsy.

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

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

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

148 effort can cause myoclonic jerks in juvenile myoclonic epilepsy.

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

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

151 Myoclonic jerking and seizures were prominent in the PPT

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

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

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

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

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

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

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

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

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

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

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

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

164 enetetrazole-induced seizures (hypoactivity, myoclonic jerks, continuous tonic-clonic), which correla

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

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

167 ude neurodevelopmental regression, seizures, myoclonic jerks, progressive microcephaly, and cerebella

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

169 s that coincide with convulsive seizures and myoclonic jerks.

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

171 s approach produced dystonia and repetitive, myoclonic-like, jerking movements in mice that improved

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

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

174 lly from the second decade of life and overt myoclonic or generalised tonic-clonic seizures.

175 All six patients experiencing daily absence, myoclonic, or atonic seizures became seizure-free (excep

176 eet, pathological laughter and crying, jerky myoclonic postural/action tremor and polyminimyoclonus)

177 The myoclonic scores for the posthypoxic rats injected with

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

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

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

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

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

183 Adult T6'Y knockin mice exhibited myoclonic seizures and abnormal cortical EEG, including

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

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

186 ressive myoclonus epilepsy with debilitating myoclonic seizures and relatively infrequent tonic-cloni

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

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

189 Myoclonic seizures occurred at behavioral-state transiti

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

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

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

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

194 or EPM1 by displaying progressive ataxia and myoclonic seizures.

195 d occasionally cognitive impairment preceded myoclonic seizures.

196 fe, mainly consisting of epileptic spasms or myoclonic seizures.

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

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

199 Respondents continue to rely on myoclonic status epilepticus and neuroimaging, which wer

200 Myoclonic status epilepticus was invariably associated w

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

202 ture of autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE), a syndrome not ye

203 Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life

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

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

206 Myoclonic twitches are jerky movements that occur exclus

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

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

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

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

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

212 by bursts of rapid eye movements (REMs) and myoclonic twitches of the limbs.(1) Like the spontaneous

213 rats with whisker movements during wake and myoclonic twitches of the whiskers during active (REM) s

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

215 Myoclonic twitches were consistently followed by neocort

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

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

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

219 (1-10 mM), into the NMC block locomotion and myoclonic twitches.

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

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

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

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

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

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

226 Myoclonic twitching is a ubiquitous feature of infant be

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

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

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

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

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

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

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

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

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

236 rscapular temperature and decreased rates of myoclonic twitching.

237 DMV2K (kuru-plaque type) and 121 sCJDMM(V)1 (myoclonic type) subjects for clinical symptoms, objectiv

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

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