ライフサイエンスコーパス: epilepsy

1 rly-onset diabetes, severe microcephaly, and epilepsy.

2 affecting almost 40% of adult patients with epilepsy.

3 se of mTOR inhibitors in preventing acquired epilepsy.

4 pathologies ranging from neuropathic pain to epilepsy.

5 The majority of the individuals have epilepsy.

6 ctrum disorder, intellectual disability, and epilepsy.

7 ms such as mental retardation, seizures, and epilepsy.

8 of the most common causes of inherited focal epilepsy.

9 e impairment in drug-resistant temporal lobe epilepsy.

10 absence or dysfunction of which is linked to epilepsy.

11 e AMPAR activation leads to diseases such as epilepsy.

12 isorder with prominent temperature-sensitive epilepsy.

13 sorders, including schizophrenia, autism and epilepsy.

14 or therapeutic intervention in temporal lobe epilepsy.

15 s and is the leading cause of post-traumatic epilepsy.

16 ychiatric and neurological diseases, such as epilepsy.

17 3) for stroke, and 1.7 (95% CI, 1.6-1.8) for epilepsy.

18 ors is paradoxical in the acquired models of epilepsy.

19 nrelated families with progressive myoclonus epilepsy.

20 chiatric disorders, functional disorders and epilepsy.

21 benefits in the management of patients with epilepsy.

22 rgence in autism spectrum disorder (ASD) and epilepsy.

23 f maternal versus paternal family history of epilepsy.

24 rkinson's disease, motor neuron diseases, or epilepsy.

25 erlies many neurologic disorders, especially epilepsy.

26 yperactivity and bipolar disorder as well as epilepsy.

27 ases including cancer, neurodegeneration and epilepsy.

28 a, ischemia, glioma progression, stroke, and epilepsy.

29 pha1-GABA(A)R variant that results in severe epilepsy.

30 l seizures in a mouse model of temporal lobe epilepsy.

31 h intellectual disability, microcephaly, and epilepsy.

32 s manifested in pathological regimes such as epilepsy.

33 5-HT(1A) agonists in the treatment of Dup15q epilepsy.

34 al chemoconvulsant mouse model that develops epilepsy.

35 h microcephaly, intellectual disability, and epilepsy.

36 rain malformation, developmental delays, and epilepsy.

37 s of several neurologic disorders, including epilepsy.

38 patients and animal models of temporal lobe epilepsy.

39 nation, hypotonia, developmental arrest, and epilepsy.

40 novel genetic cause of progressive myoclonus epilepsy.

41 n linked to neurological disorders including epilepsy.

42 y represents a major cause of drug-resistant epilepsy.

43 the investigation of brain disorders such as epilepsy.

44 sult through to the establishment of chronic epilepsy.

45 channels are linked to heart arrhythmia and epilepsy.

46 mpus, a region associated with temporal lobe epilepsy.

47 nt events are critical in the translation to epilepsy.

48 bility and its monitoring in conditions like epilepsy.

49 s are important preventable risk factors for epilepsy.

50 of the most common forms of focal childhood epilepsy.

51 ed treatment option for drug-resistant focal epilepsy.

52 essing diseases like Parkinson's Disease and Epilepsy.

53 ociated disorders, such as schizophrenia and epilepsy.

54 among unselected people with new-onset focal epilepsy.

55 ctivity of KPNA7 in a rare type of pediatric epilepsy.

56 riptomic alterations associated with chronic epilepsy.

57 luding chronic neuropathic pain, autism, and epilepsy.

58 elevated risk of sudden unexpected death in epilepsy.

59 tcomes in a cohort of 36 patients with focal epilepsy.

60 led 351 pregnant women and 109 controls with epilepsy.

61 iasis - have an established association with epilepsy.

62 ents with uncontrolled focal (partial)-onset epilepsy.

63 ividuals with focal (FE) or generalized (GE) epilepsy.

64 lopathy type 13, also known as SCN8A-related epilepsy.

65 ders including intellectual disabilities and epilepsies.

66 herapies for these highly pharmaco-resistant epilepsies.

67 xia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercis

68 EMP) and heart rate (HR) from 66 people with epilepsy (9.9 +/- 5.8 years; 27 females; 161 seizures) w

69 Epilepsy, a condition characterised by spontaneous recur

70 on is thought to have a pathogenetic role in epilepsy, a disorder characterized by an imbalance betwe

71 e strongest risk CNV for genetic generalized epilepsy across the whole genome.

72 ion, and their mutations in humans may cause epilepsies and cognitive defects.

73 e related to neurological disorders, such as epilepsy and Alzheimer's disease, and, therefore, select

74 of cortical neurons is associated with both epilepsy and autism spectrum disorders.

75 ensorimotor cortex of people with refractory epilepsy and classified five facial expressions, based o

76 (VNS) is widely used to treat drug-resistant epilepsy and depression.

77 consumption, depression, daytime somnolence, epilepsy and earlier menarche.

78 s might have an increased short-term risk of epilepsy and Guillain-Barre syndrome.

79 us neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with visual imp

80 the function of Slack channels, resulting in epilepsy and intellectual disability.

81 velopmental disorders including often severe epilepsy and intellectual disability.

82 of NDDs with severe intellectual disability, epilepsy and microcephaly.

83 cant morbidity, including the development of epilepsy and mortality.

84 acebo-controlled, dose-response study at 107 epilepsy and neurology centres in 16 countries.

85 long-term changes in brain function, such as epilepsy and neuropsychiatric illnesses.

86 We observed that genetic generalized epilepsy and non-acquired focal epilepsy formed disease

87 ral cortex samples of multiple temporal lobe epilepsy and non-epileptic subjects.

88 Individuals with temporal lobe epilepsy and normal MRI showed a similar pattern of grea

89 Co-occurring health issues, such as epilepsy and other neurodevelopmental disorders, sleep p

90 ircuits associated with neuroinflammation in epilepsy and other neurologic disorders.SIGNIFICANCE STA

91 Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model.

92 insight into the mechanism of SCN8A-related epilepsy and reveal subtle but potentially important dis

93 Sera of 4 patients with adult onset epilepsy and suspected encephalitis of unresolved etiolo

94 In the serum of a patient with adult onset epilepsy and suspected encephalitis, a strong signal at

95 variants in UBR1, notably by the presence of epilepsy and the absence of exocrine pancreatic insuffic

96 cent genotyping of an individual with severe epilepsy and Williams-Beuren syndrome identified a frame

97 ociation between histopathology, duration of epilepsy, and age at surgery, and the primary outcomes u

98 ses, including chronic kidney disease (CKD), epilepsy, and amyotrophic lateral sclerosis (ALS), manti

99 o neural disorders, including schizophrenia, epilepsy, and autism spectrum disorder (ASD).

100 quality of life, promote the development of epilepsy, and can be fatal.

101 s have been linked to schizophrenia, autism, epilepsy, and cognitive impairment.

102 lesional focal epilepsy, non-acquired focal epilepsy, and developmental and epileptic encephalopathy

103 , Parkinson's disease, motor neuron disease, epilepsy, and Guillain-Barre syndrome.

104 yield new targets for surgical treatment of epilepsy, and more generally could provide new insights

105 -clonic seizures in a model of temporal lobe epilepsy, and rescued cognitive impairment and transcrip

106 including cortical malformations, childhood epilepsy, and TSC-associated neuropsychiatric disorders

107 of the link between parasitic infections and epilepsy, and we consider preventive and therapeutic app

108 Epilepsies are a group of neurological disorders charact

109 The epilepsies are commonly accompanied by widespread abnorm

110 l diagnosis, age at surgery, and duration of epilepsy are important prognostic factors for outcomes o

111 e mechanisms by which SCN8A variants lead to epilepsy are poorly understood, although heterologous ex

112 More than a third of patients with epilepsy are treatment resistant, and thus new, more eff

113 The diagnoses of low-grade epilepsy associated neuroepithelial tumour (LEAT), vascu

114 seizures (EIMFS) and several other forms of epilepsy associated with severe intellectual disability.

115 show for the first time that the established epilepsy-associated 15q13.3 deletion represents the stro

116 mon epilepsy types, 1.5-3% of patients carry epilepsy-associated CNVs.

117 erapeutic approaches to reduce the burden of epilepsy attributable to parasitic disorders.

118 evelopment and have been linked to childhood epilepsy before, but the underlying mechanisms of this r

119 seizure, ripples predict the development of epilepsy better than spikes or spike ripples and might b

120 ere significantly activated in temporal lobe epilepsy brain samples, including the c-Jun N-terminal k

121 ogical disorders like AD, PD, schizophrenia, epilepsy, brain cancer, CNS infection (viral and fungal)

122 altered Ca(2+) signalling in many aspects of epilepsy but the diversity of Ca(2+) channels that regul

123 8%) individuals with PNES without coexistent epilepsy carry P/LP variants (deletions at 10q11.22-q11.

124 ion in epilepsy to date with 10 712 European epilepsy cases and 6746 ancestry-matched controls.

125 emical analysis of tissue from temporal lobe epilepsy cases revealed increased phosphorylation of ful

126 In temporal lobe epilepsy cases, hippocampal levels of phosphorylated amy

127 variants reported in human childhood absence epilepsy cases.

128 nse variant was discovered in a patient with epilepsy, causing amino acid substitution F302L at helix

129 dataset of 47 patients with TLE from 3 other epilepsy centers was used to assess the predictive value

130 were selected from 91 patients of 3 tertiary epilepsy centers.

131 ly 30% of patients referred to tertiary care epilepsy centers.

132 duals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellec

133 ntal, neurodegenerative, muscular dystrophy, epilepsy, chronic pain and neoplastic diseases.

134 year, 8 (0.4%) of the LNB patients developed epilepsy, compared with 20 (0.1%) of the comparison coho

135 In 14 patients with typical RTT, 9 epilepsy control patients, and 11 healthy controls, we a

136 ed them with publicly available data, living epilepsy controls and ethnicity-match non-epilepsy contr

137 ng epilepsy controls and ethnicity-match non-epilepsy controls, to identify potential candidate genes

138 ad neurodegenerative disease with refractory epilepsy, developmental regression, and reduced white ma

139 Epilepsy develops in 70 to 90% of children with tuberous

140 Genetic epilepsy diagnoses now directly affect clinical care, an

141 ttention deficits can be detected before the epilepsy diagnosis, may persist even when seizures are p

142 negatively correlated to days passing before epilepsy-diagnosis (R = -0.59, p < 0.0001) and time to a

143 ion in SV2A identified in an individual with epilepsy displays reduced binding to synaptotagmin-1 (Sy

144 ighlighting the need for novel strategies in epilepsy drug development.

145 Epilepsies due to DEPDC5 mutations are often associated

146 ossible confounding factors, such as age and epilepsy duration.

147 Stereo-EEG performed for presurgical epilepsy evaluation offers the unique possibility to stu

148 e only in the human brain during presurgical epilepsy evaluation, we explored the intracranial correl

149 For patients with drug-resistant focal epilepsy, excision of the epileptogenic zone is the most

150 trategy can effectively treat acquired focal epilepsy, focusing on ion channels because their manipul

151 s (age >=18 years) with drug-resistant focal epilepsy followed at 35 centres across the USA between J

152 a primary role for mTORC1 hyperactivation in epilepsy following homozygous loss of Depdc5, but also s

153 of early epileptogenesis (the development of epilepsy) following SE.

154 generalized epilepsy and non-acquired focal epilepsy formed disease modules.

155 it cell cycle during the transition, whereas epilepsy genes function as downstream effectors in the s

156 Patients with generalized and extratemporal epilepsies had pronounced reductions in fractional aniso

157 c treatment to modify the natural history of epilepsy has been proposed.

158 m these cases as well as screened for SUDEP, epilepsy, heart disease or respiratory disease-related g

159 anning in patients with medically refractory epilepsy; however, their spatial and temporal dynamics a

160 velopmental defects and clinical features of epilepsy identified two amino acid-altering mutations in

161 Idiopathic epilepsy (IE) is the most common chronic neurological co

162 like seizure onset in Idiopathic Generalized Epilepsy (IGE) and present a novel approach to classific

163 Focal epilepsy in adults is associated with progressive atroph

164 ral lobe epilepsy is the most common form of epilepsy in adults, but current treatment options provid

165 st common form of medication-resistant focal epilepsy in adults.

166 letion of which causes cerebellar ataxia and epilepsy in mice and humans.

167 icercosis (NCC) is a major cause of acquired epilepsy in most of the world.

168 ared to the previously reported high risk of epilepsy in patients with PMG.

169 ed from patients with idiopathic generalised epilepsy, in which we successfully suppress pathological

170 Participants were adults with epilepsy, in whom treatment with newer generation AEDs w

171 months and then grouped in "epilepsy" or "no epilepsy." Initial EEGs were visually analyzed for spike

172 Regarding the epilepsies, innovations centred around technology, analy

173 erbal memory performance in 20 patients with epilepsy investigated with stereoelectroencephalography

174 es in Dravet syndrome.SIGNIFICANCE STATEMENT Epilepsy is a common neurological disorder defined by re

175 Temporal lobe epilepsy is a complex neurological disease caused by imb

176 Although epilepsy is a dynamic disorder characterized by patholog

177 Drug-resistant focal epilepsy is a large-scale brain networks disorder charac

178 Epilepsy is a major health burden, calling for new mecha

179 inhibitors in preclinical models of acquired epilepsy is inconsistent.

180 Epilepsy is often associated with emotional disturbances

181 Insula epilepsy is rare and can be evaluated effectively by Ste

182 Temporal lobe epilepsy is the most common form of epilepsy in adults,

183 However, the management of epilepsy is usually restricted to the control of seizure

184 nel blocker used clinically for treatment of epilepsy, is a diastolic inhibitor of cardiac calcium re

185 h Centro-temporal Spikes (BECTS) or Rolandic Epilepsy, is one of the most common forms of focal child

186 Patients with genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal ep

187 ar nucleus-enriched, human childhood absence epilepsy-linked gene Cacna1h in iKOp/q mice reduces thal

188 The epilepsy-linked gene SV2A, has a number of potential rol

189 ression also modulated seizures caused by an epilepsy-linked mutation in Gabrg2, a gene encoding a GA

190 ver 500 seizures from 31 patients with focal epilepsy (mean 16.5 seizures per patient).

191 of the comparison cohort for risk of cancer, epilepsy, mental and behavioral disorders, dementia, dep

192 ychosocial comorbidities and the effect that epilepsy might have on an older person's broader social

193 detected microRNAs were dysregulated in each epilepsy model.

194 Our solution is a Modular Platform for Epilepsy Modelling In Vitro (MEMO), a lab-on-chip device

195 on-refractory focal epilepsy patients during epilepsy monitoring unit admission.

196 Mesial temporal lobe epilepsy (MTLE) is a chronic neurological disorder affec

197 c comparison of R850Q with three other SCN8A epilepsy mutations, T761I, R1617Q and R1872Q, identifies

198 th normal MRI (n = 275), genetic generalized epilepsy (n = 182) and non-lesional extratemporal epilep

199 psy (n = 182) and non-lesional extratemporal epilepsy (n = 193).

200 genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal epilepsy, and developmental

201 llow-up 7.6 years [IQR 2.2-15.5]), new-onset epilepsy occurred in 32% compared to 2% in matched popul

202 , 2-5 year, and 6-30 year HRRs for new-onset epilepsy of 155 (78.8-304), 37.7 (23.0-59.9), and 8.93 (

203 ncoding Slack (K(Na)1.1) channels, result in epilepsy of infancy with migrating focal seizures (EIMFS

204 memory hub, has been studied in people with epilepsy or Alzheimer's disease, intending to enhance me

205 and ramified cells from mesial temporal lobe epilepsy or peritumoral cortex tissue expressed P2Y12 re

206 ectively over 12 months and then grouped in "epilepsy" or "no epilepsy." Initial EEGs were visually a

207 Parkinson's disease, motor neuron diseases, epilepsy, or Guillain-Barre.

208 cortical parenchyma of young, drug-resistant epilepsy patients (18-28 years old) who underwent resect

209 s procedure to electrodes implanted in human epilepsy patients (both male and female) over the poster

210 le-unit and multiunit activity recorded from epilepsy patients as they completed a continuous recogni

211 M) sleep, in six medication-refractory focal epilepsy patients during epilepsy monitoring unit admiss

212 Genetic generalized epilepsy patients have the highest CNV burden in all cat

213 intracranial recordings from 30 pre-surgical epilepsy patients to show that patterns of endogenous ac

214 oelectrode recordings obtained from 27 human epilepsy patients who performed an episodic memory task.

215 lobe cortex of drug-resistant temporal lobe epilepsy patients who underwent temporal lobe resection

216 We analyzed cortical responses from 96 epilepsy patients with electrode implantation in left or

217 cortex, is typically used in drug-resistant epilepsy patients, and is increasingly being used to stu

218 to be a cause of memory deficits in chronic epilepsy patients, but the underlying mechanisms are not

219 ted epilepsy types, including lesional focal epilepsy patients, showed an increase in CNV burden in a

220 n syndromes in a multicentre sample of adult epilepsy patients.

221 Memory deficits are common in epilepsy patients.

222 lopathy patients but also for lesional focal epilepsy patients.

223 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease cau

224 GWAS data by analyzing bipolar disorder and epilepsy phenotypes available from the UK Biobank.

225 h variants in GABRB2 demonstrated a range of epilepsy phenotypes from genetic generalized epilepsy to

226 (including abnormal neonatal cry, hypotonia, epilepsy, polyneuropathy, cerebral gray matter atrophy),

227 In every patient with refractory focal epilepsy presumed to be lesional, evaluation for surgery

228 athway in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism that differs from J

229 en individuals with intellectual disability, epilepsy, ptosis, hypothyroidism, and genital anomalies,

230 eizures may contribute to the development of epilepsy-related emotional disorders.

231 Here, we characterize a new epilepsy-related SCN8A mutation, R850Q, in human Nav1.6.

232 We characterize a new epilepsy-related SCN8A mutation, R850Q, in the human SCN

233 e observed changes are needed, indicate that epilepsy-related state changes may be detectable using p

234 nogenic cause of intellectual disability and epilepsy remain unresolved.

235 which aberrant neural circuits contribute to epilepsy remains unclear.

236 Temporal lobe epilepsy represents a major cause of drug-resistant epil

237 nts one of the major discoveries not only in epilepsy research but also in cognitive science over the

238 ome-based diagnostic panel in an infant with epilepsy revealed a previously unreported de novo missen

239 Previous studies have observed that epilepsy risk is higher among offspring of affected wome

240 iched for genetic factors that contribute to epilepsy risk.

241 d have major roles in human diseases such as epilepsy, schizophrenia, cancer, and sudden cardiac deat

242 Overall, patients with epilepsy showed white matter abnormalities in the corpus

243 In a patient with focal epilepsy, simultaneous intracranial stereoencephalograph

244 tion and pneumonia were limited to childhood epilepsy studies, where CBD may have interacted with oth

245 Among women with epilepsy, studies regarding changes in seizure frequency

246 ncreased risk of sudden unexplained death in epilepsy (SUDEP).

247 our customizable probes in a mouse model of epilepsy, suggesting the potential of using these probes

248 Consecutive epilepsy surgery patients (n = 24) from UCLA Mattel Chil

249 These results provide evidence of epilepsy surgery preventing further cerebral damage and

250 nilateral refractory TLE patients undergoing epilepsy surgery, a validation set of 55 unilateral refr

251 outcome and drug freedom up to 5 years after epilepsy surgery, to improve presurgical decision making

252 tonometry at the time of open craniotomy for epilepsy surgery.

253 epilepsy tissue and to guide the conduct of epilepsy surgery.

254 all ages with histopathology available after epilepsy surgery.

255 ho underwent intracranial EEG evaluation for epilepsy surgery.

256 important prognostic factors for outcomes of epilepsy surgery.

257 novel intraoperative tool for the conduct of epilepsy surgery.

258 e and sex, examined differences between each epilepsy syndrome and controls for each white matter tra

259 ta from clinical trials outside of childhood epilepsy syndromes and from studies of over-the-counter

260 ies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopme

261 rnal capsule, with differing severity across epilepsy syndromes.

262 tictal state remain a major unmet problem in epilepsy that lacks pathophysiological explanation and t

263 patients (13 female) with intractable focal epilepsy, that were tracked throughout multiple seizures

264 xyglucose PET imaging in patients with focal epilepsy-that inherently capture disconnection effects,

265 It also describes the different types of epilepsy, the different presentations, the signs, the ra

266 After excluding studies in childhood epilepsy, the only adverse outcome associated with CBD t

267 Among women with epilepsy, the percentage who had a higher incidence of s

268 associated with intellectual disability and epilepsy; the functional effects of those mutations, how

269 roportion of patients with pharmacoresistant epilepsy, their availability has enabled more opportunit

270 s work will aid development of refined AMPAR epilepsy therapeutics and facilitate to uncover the mech

271 a useful platform for discovering precision epilepsy therapies.

272 the surgical treatment of pharmacoresistant epilepsy, there is rather little research on the neural

273 o understand the biomechanical properties of epilepsy tissue and to guide the conduct of epilepsy sur

274 luded subjects with unilateral temporal lobe epilepsy (TLE) before (n = 29) or after (n = 56) anterio

275 Temporal lobe epilepsy (TLE) is characterized by recurrent seizures dr

276 Medial temporal lobe epilepsy (TLE) is the most common form of medication-res

277 campal sclerosis are common in temporal lobe epilepsy (TLE), but little is known about the relationsh

278 we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and

279 epilepsy phenotypes from genetic generalized epilepsy to developmental and epileptic encephalopathy.

280 Both epilepsy types also show association for deletions cover

281 ed striking differences in CNV burden across epilepsy types and investigated CNV categories.

282 In summary, we show that in all common epilepsy types, 1.5-3% of patients carry epilepsy-associ

283 All investigated epilepsy types, including lesional focal epilepsy patien

284 isk CNVs vary tremendously across and within epilepsy types.

285 neurons from mPFC and MTL from patients with epilepsy undergoing intracranial recordings and particip

286 Seizure detection is a routine process in epilepsy units requiring manual intervention of well-tra

287 t seizure outcomes; and a longer duration of epilepsy was associated with reduced chance of favourabl

288 Epilepsy was infrequent compared to the previously repor

289 Interestingly, epilepsy was present in only 2 of the 12 patients with P

290 fold risk for developing genetic generalized epilepsy, we show for the first time that the establishe

291 Nonpregnant women with epilepsy were enrolled as controls and had similar follo

292 aluation, patients with drug-resistant focal epilepsy were instructed to overtly explain, in a senten

293 is "maternal effect" was present in familial epilepsies, which are enriched for genetic factors that

294 We found that the presence of epilepsy, which manifested before the age of 3 years in

295 otemporal spikes, previously known as Benign Epilepsy with Centro-temporal Spikes (BECTS) or Rolandic

296 Childhood epilepsy with centrotemporal spikes, previously known as

297 hy controls and 1249 patients: temporal lobe epilepsy with hippocampal sclerosis (n = 599), temporal

298 The patient was suffering from myoclonic epilepsy with hypotonia and severe motor disability.

299 ppocampal sclerosis (n = 599), temporal lobe epilepsy with normal MRI (n = 275), genetic generalized

300 ntials - notably ion channels mutated in the epilepsies - yet data now support a surprising role in p