ライフサイエンスコーパス: focal epilepsy

1 d mutations in DEPDC5 as a cause of familial focal epilepsy.

2 al treatments or therapies for some forms of focal epilepsy.

3 tients, with difficult to localise and treat focal epilepsy.

4 s in >10% of small families with nonlesional focal epilepsy.

5 was restricted to offspring of probands with focal epilepsy.

6 al delay as well as 1 individual with ID and focal epilepsy.

7 epilepsy and 27% (standard deviation 5%) for focal epilepsy.

8 2.6 (95% confidence interval 1.19-4.26) for focal epilepsy.

9 2.5 (95% confidence interval 0.92-4.00) for focal epilepsy.

10 s one of the most common causes of inherited focal epilepsy.

11 delay as well as of ID with childhood onset focal epilepsy.

12 e lateralization in children with left-sided focal epilepsy.

13 ment, most of whom were newly diagnosed with focal epilepsy.

14 al neuronal activity, especially intractable focal epilepsy.

15 ppealing for selected people with refractory focal epilepsy.

16 mechanisms generating these events in human focal epilepsy.

17 ith localized pathology, such as intractable focal epilepsy.

18 table epilepsy may be delayed, especially in focal epilepsy.

19 in 63 consecutively recruited patients with focal epilepsy.

20 al development often suffer from intractable focal epilepsy.

21 surgical outcome in patients with refractory focal epilepsy.

22 ribute to the development and maintenance of focal epilepsy.

23 tified in human participants with refractory focal epilepsy.

24 ate seizures in patients with drug-resistant focal epilepsy.

25 recommended for patients with drug-resistant focal epilepsy.

26 ping of epileptic networks in drug-resistant focal epilepsy.

27 rates in those suffering from drug-resistant focal epilepsy.

28 going intracranial monitoring for refractory focal epilepsy.

29 h-electrode recordings in four patients with focal epilepsy.

30 oral lobe epilepsy (MTLE) is the most common focal epilepsy.

31 mapping epileptic networks in patients with focal epilepsy.

32 ious in a subset of patients with refractory focal epilepsy.

33 in selected individuals with drug-resistant focal epilepsy.

34 eful marker of cortical hyperexcitability in focal epilepsy.

35 rgeting to modulate epileptiform activity in focal epilepsy.

36 tment for patients with medication-resistant focal epilepsy.

37 e in reducing seizures in some patients with focal epilepsy.

38 rmed in difficult-to-localize drug-resistant focal epilepsy.

39 seizure onset zone for surgical resection in focal epilepsy.

40 t of 219 consecutive patients with new-onset focal epilepsy.

41 e as first-line treatments for patients with focal epilepsy.

42 biomarkers for precision presurgical care in focal epilepsy.

43 ders as diverse as microcephaly, autism, and focal epilepsy.

44 treatment for patients with newly diagnosed focal epilepsy.

45 n samples from three pediatric patients with focal epilepsy.

46 al for improving treatment of drug-resistant focal epilepsy.

47 h lamotrigine in people with newly diagnosed focal epilepsy.

48 on to other seizure semiological features of focal epilepsy.

49 ng surgical evaluation for pharmacoresistant focal epilepsy.

50 recurrent seizures characteristic of chronic focal epilepsy.

51 EEG segments could support the diagnosis of focal epilepsy.

52 nine patients with unilateral drug-resistant focal epilepsy.

53 accepted treatment option for drug-resistant focal epilepsy.

54 odies among unselected people with new-onset focal epilepsy.

55 eizures and a long history of drug-resistant focal epilepsy.

56 ery is an effective treatment for refractory focal epilepsy.

57 ampled at 2,048 Hz in people with refractory focal epilepsy.

58 guage function for presurgical evaluation of focal epilepsy.

59 is valuable for understanding drug-resistant focal epilepsy.

60 tical circuits and may lead to generation of focal epilepsy.

61 s in the electroencephalogram of people with focal epilepsy.

62 ion outcomes in a cohort of 36 patients with focal epilepsy.

63 NPRL2 and NPRL3, also contribute to cases of focal epilepsy.

64 h FCD or magnetic resonance imaging-negative focal epilepsy.

65 ing reveals most cerebral lesions underlying focal epilepsy.

66 is an effective treatment for drug-resistant focal epilepsy.

67 ality in patients with medically intractable focal epilepsy.

68 Of these, 46,995 (47%) had focal epilepsy.

69 of structural and functional disruptions in focal epilepsy.

70 ncing to analyze 404 unrelated probands with focal epilepsy.

71 emerged as a major gene mutated in familial focal epilepsies.

72 ortant risk factors for both generalized and focal epilepsies.

73 tudy in epilepsy has been published, for the focal epilepsies.

74 of the severity of the clinical phenotype in focal epilepsies.

75 actice, particularly in medically refractory focal epilepsies.

76 ain stimulation in patients with intractable focal epilepsies.

77 to most seizures that are characteristic of focal epilepsies.

78 NOX may provide a breakthrough treatment for focal epilepsies.

79 3 patients (mean age 25 +/- 11 years); (iii) focal epilepsy, 15 patients (mean age 25 +/- 9 years).

80 obands with either generalized (2.5-fold) or focal epilepsy (2.6-fold) may reflect some coexisting sh

81 ve seizures from 48 subjects with refractory focal epilepsy (20 females, age range 15-61 years).

82 All patients had drug-resistant focal epilepsy, 5 of them underwent surgery, and 1 had a

83 ysed data from 612 consecutive patients with focal epilepsy admitted to a video-EEG Telemetry Unit fo

84 nance in patients with medically intractable focal epilepsies against the results of an intracarotid

85 Participants with confirmed diagnosis of focal epilepsy aged 12 to 60 years were enrolled within

86 ranial electrode sites from 37 children with focal epilepsy (aged 5-20 years) who underwent extra-ope

87 However, the similar increase in risk for focal epilepsy among relatives of probands with either g

88 Self-limited focal epilepsies and genetic generalised epilepsy phenot

89 mycin (mTOR) repressor GATOR1 complex, cause focal epilepsies and increase the risk of sudden unexpec

90 epilepsy (TLE) is the most frequent form of focal epilepsies and is generally associated with malfun

91 es, were a prominent feature of MRI-negative focal epilepsies and may represent neuronal migration di

92 -specific alterations in the two most common focal epilepsies and sheds light on system behaviour tha

93 We studied 220 patients with focal epilepsy and 118 healthy volunteers who performed

94 recordings during sleep in 15 patients with focal epilepsy and 15 control subjects.

95 althy controls, 10 patients with nonlesional focal epilepsy and 8 patients with idiopathic generalize

96 ich 24 have similar antiseizure efficacy for focal epilepsy and 9 have similar efficacy for generaliz

97 most often implicated in familial/inherited focal epilepsy and brain malformations.

98 ay have a role in preoperative evaluation of focal epilepsy and can be extended to identify GM pathol

99 Participants with focal epilepsy and high cardiovascular risk were more th

100 We included 119 subjects, 33 patients with focal epilepsy and histopathologically confirmed FCD, 60

101 ce imaging was performed in 51 children with focal epilepsy and left-sided lesions and 36 healthy con

102 families with multiple members affected with focal epilepsy and linkage analysis on one of these.

103 rror "disease activity" in pharmacoresistant focal epilepsy and may have clinical utility as a biomar

104 e frequency in patients with drug-refractory focal epilepsy and may offer a promising treatment optio

105 d in 44 patients with refractory neocortical focal epilepsy and normal optimal MRI.

106 arges (IEDs), along with three children with focal epilepsy and one adult with frequent seizures.

107 tudy both long-range network disturbances in focal epilepsy and regional connectivity at the epilepto

108 ain a first-line treatment for patients with focal epilepsy and should be the standard treatment in f

109 ptimal use and interpretation of EEG-fMRI in focal epilepsy and suggest a possible role for EEG-fMRI

110 these pathways play a central role in human focal epilepsy and that they are important currently une

111 ng pathways) are genetically associated with focal epilepsy and, hence, likely causal.

112 UK patients with epilepsy, of which 958 have focal epilepsy, and 5129 population control subjects, wi

113 lepsy, lesional focal epilepsy, non-acquired focal epilepsy, and developmental and epileptic encephal

114 pted in the neural networks of patients with focal epilepsy, and epileptic activity can exert widespr

115 l connectivity are observed in patients with focal epilepsy, and may reflect deleterious long-term ef

116 of the genetic influences on generalized and focal epilepsies are distinct.

117 Focal epilepsies are the most common form observed and h

118 Children with focal epilepsy are at increased risk of language impairm

119 Individuals with drug-resistant focal epilepsy are candidates for surgical treatment as

120 e molecular mechanisms underlying refractory focal epilepsy are poorly defined, we performed transcri

121 Some patients had focal epilepsy associated with brain malformations.

122 ts from 4 families with DEPDC5 mutations and focal epilepsy associated with FCD were recruited and in

123 entral apnea (ICA) is a semiological sign of focal epilepsy, associated with temporal and frontal lob

124 ders (5.6 K to 13.9 K causal variants), with focal epilepsy being the least polygenic (1.0 K variants

125 commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association w

126 t can bring seizure remission in people with focal epilepsy but requires careful selection of candida

127 sease, including neurological disorders like focal epilepsies, but can be challenging to study due to

128 in selected individuals with drug-resistant focal epilepsy, but it is probably not used enough.

129 d among treatment options for drug-resistant focal epilepsy, but over a quarter of patients treated w

130 re licensed as monotherapy for patients with focal epilepsy, but there is uncertainty as to whether t

131 ion effects can be detected in patients with focal epilepsy by using a phase-cycled stimulus-induced

132 oral lobe epilepsy, the most common cause of focal epilepsy, can control seizures and improve quality

133 Seizure patterns identified in focal epilepsies caused by diverse etiologies are likely

134 S were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish,

135 1.22 to 2.02, p < 0.001), and in women with focal epilepsy compared to those with generalised epilep

136 in humans and in different animal models of focal epilepsy correlates with reduction of neuronal fir

137 Eligibility criteria included focal epilepsy diagnosis, age between 16 and 65 years, a

138 ing that although the clinical definition of focal epilepsy does identify a genetically distinct epil

139 Patients with focal epilepsy due to malformations of cortical developm

140 ed with depth electrodes in 15 patients with focal epilepsy during a resting period and subsequently

141 ecordings in 36 patients with drug-resistant focal epilepsy during presurgical intracerebral electric

142 -acid-induced mouse models of drug-resistant focal epilepsy, electric-field changes in the brain asso

143 nar fMRI in improving surgical targeting for focal epilepsies, elucidating the mechanistic effects of

144 European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64x10-15; Cleveland: P = 2.

145 sing the independent cohort of patients with focal epilepsy, evaluated whether pattern loadings of no

146 treatment of drug-resistant DEPDC5-positive focal epilepsies, even if the MRI is unremarkable.

147 For patients with drug-resistant focal epilepsy, excision of the epileptogenic zone is th

148 Many patients with focal epilepsy experience seizures despite treatment wit

149 tients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish

150 For focal epilepsies, first-line ASMs achieved similar rates

151 this strategy can effectively treat acquired focal epilepsy, focusing on ion channels because their m

152 in adults (age 18 years) with drug-resistant focal epilepsy followed at 35 centres across the USA bet

153 adults (age >=18 years) with drug-resistant focal epilepsy followed at 35 centres across the USA bet

154 that followed up people with newly diagnosed focal epilepsy for up to 6 years between 2012 and 2020.

155 enetic generalized epilepsy and non-acquired focal epilepsy formed disease modules.

156 her effectively differentiated patients with focal epilepsy from non-epileptic controls (mean AUC 0.7

157 e have identified NPRL2 and NPRL3 as two new focal epilepsy genes that also play a role in the mTOR-s

158 The patient with ID and focal epilepsy had a missense mutation in the extracellu

159 10.5% (23/219) of people with new-onset focal epilepsy had detectable serum autoantibodies to kn

160 ncreasingly used as treatment for refractory focal epilepsy; however, few rigorous reports of long-te

161 can lead to seizure freedom in patients with focal epilepsy; however, sometimes it fails due to an in

162 ome sequencing analysis of two families with focal epilepsy identified NPRL2 and NPRL3 as the top can

163 s are the most significant cause of familial focal epilepsy identified to date, including cases with

164 accurate delineation of surgical targets in focal epilepsy; (ii) reveal why interictal suppression o

165 oral lobe epilepsy (mTLE) is the most common focal epilepsy in adults and is often refractory to medi

166 Focal epilepsy in adults is associated with progressive

167 the most common form of medication-resistant focal epilepsy in adults.

168 w-grade brain tumours that cause intractable focal epilepsy in children and adults.

169 PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals.

170 Here we use a mouse cortical slice model of focal epilepsy in which the epileptogenic focus can be i

171 For patients with pharmacoresistant focal epilepsy in whom surgical resection of the epilept

172 f268 and c-fos, were investigated in chronic focal epilepsy induced by tetanus toxin (TT, 20-35 ng) i

173 Focal epilepsy involves excessive cortical activity that

174 Focal epilepsy is a common and severe neurologic disorde

175 Refractory focal epilepsy is a devastating disease for which there

176 Intractable focal epilepsy is a devastating disorder with profound e

177 Focal epilepsy is a difficult disease to treat as two-th

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

179 Focal epilepsy is associated with intermittent brief pop

180 Focal epilepsy is characterized by the cyclical recurren

181 Focal epilepsy is commonly pharmacoresistant, and resect

182 Treatment for medication-resistant focal epilepsy is often structural-through surgery or la

183 tifactorial model of white matter atrophy in focal epilepsy is proposed.

184 sess how similar the genetic architecture of focal epilepsy is to that of non-focal epilepsy; we demo

185 Drug-resistant focal epilepsy is widely recognized as a network disease

186 epilepsy, the most prevalent form of chronic focal epilepsy, is associated with a high prevalence of

187 n form of drug-resistant epilepsy in adults, focal epilepsy, is lacking.

188 Lesional focal epilepsy (LFE) is a common and severe seizure diso

189 s of over 500 seizures from 31 patients with focal epilepsy (mean 16.5 seizures per patient).

190 Twenty children with intractable focal epilepsy (mean age +/- SD, 11 +/- 4 y; age range,

191 n 172 patients suffering from drug-resistant focal epilepsy (mean age 25.6, standard deviation 11.6;

192 l delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern

193 ) and an independent cohort of patients with focal epilepsy (N = 121) to investigate whether normal E

194 8, 4-12 years, 24 females) and children with focal epilepsy (n = 21, 5-12 years, nine females) with l

195 , genetic generalized epilepsy (n = 33 446), focal epilepsy (n = 39 348), schizophrenia (n = 77 096),

196 epsy PRS burden associated with non-acquired focal epilepsy (NAFE).

197 generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE).

198 and epileptic encephalopathies as well as of focal epilepsies, namely autosomal dominant or sporadic

199 For people with refractory focal epilepsy, neurosurgical resection offers the possi

200 with genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal epilepsy, and develop

201 Why are people with focal epilepsy not continuously having seizures?

202 ghest frequency reported in individuals with focal epilepsy of unknown cause and new-onset seizures.

203 Individuals with left-sided, early-onset focal epilepsy often show atypical (i.e. bilateral or ri

204 rol seizures in patients with drug-resistant focal epilepsy, often leading to improvements in cogniti

205 onance imaging we investigated the impact of focal epilepsy on the developing language system using m

206 ings support the rapid, widespread impact of focal epilepsy on the extended brain network.

207 We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical d

208 , 57.5 [8.1] years), 3864 had a diagnosis of focal epilepsy only, 6397 had a history of stroke only,

209 pproach in guiding therapeutic resection for focal epilepsy or other neurosurgical indications by app

210 For focal epilepsy, oxcarbazepine and lamotrigine are first-

211 elopment have emerged as important causes of focal epilepsies, particularly those due to malformation

212 mpared six seizure-free and non seizure-free focal epilepsy patients after resective surgery using Ne

213 of pre- and post-seizure plasma samples from focal epilepsy patients and healthy controls (n = 32/gro

214 nt (REM) sleep, in six medication-refractory focal epilepsy patients during epilepsy monitoring unit

215 les collected during video-EEG monitoring of focal epilepsy patients identified significant differenc

216 We retrospectively analysed 38 focal epilepsy patients who underwent intracranial EEG r

217 We studied focal epilepsy patients with invasive electrocorticograp

218 lysed in 31 consecutive medically refractory focal epilepsy patients, evaluated by stereo-electroence

219 estigated epilepsy types, including lesional focal epilepsy patients, showed an increase in CNV burde

220 In focal epilepsy patients, we examined slow wave activity

221 In our cohort of 404 unrelated focal epilepsy patients, we identified five mutations in

222 ncephalopathy patients but also for lesional focal epilepsy patients.

223 intermediate/oral posterior, VIM/VOP) in 41 focal epilepsy patients.

224 MRI-negative (MRI-) pharmacoresistant focal epilepsy (PFE) patients are most challenging for e

225 (MRI(-) or "nonlesional") pharmacoresistant focal epilepsy (PFE) patients, discovering a previously

226 In the Scn2a(Q54) mouse model of epilepsy, a focal epilepsy phenotype is caused by transgenic express

227 In drug-resistant focal epilepsy, planning surgical resection can involve

228 In every patient with refractory focal epilepsy presumed to be lesional, evaluation for s

229 gously, we found significant but more modest focal epilepsy PRS burden associated with non-acquired f

230 brile seizures-but included more adults with focal epilepsies (rather than the idiopathic generalised

231 Participants were adults with drug-resistant focal epilepsy receiving a stable regimen of up to 3 ant

232 rder Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished de

233 Treatment of patients with drug-resistant focal epilepsy relies upon accurate seizure localization

234 Despite decades of epilepsy research, 30% of focal epilepsies remain resistant to antiseizure drugs,

235 ntiseizure medications (ASMs) in people with focal epilepsy remains difficult.

236 In patients with drug-resistant focal epilepsy requiring surgery, hippocampal sclerosis

237 n seizure generation in both generalized and focal epilepsies, serving as the critical link between n

238 occurring in the first place, children with focal epilepsy should be considered for epilepsy surgery

239 s of patients except for extra-temporal lobe focal epilepsy showed a significant increase in brain-PA

240 l translation in the treatment of refractory focal epilepsy.SIGNIFICANCE STATEMENT Pharmacoresistant

241 In a patient with focal epilepsy, simultaneous intracranial stereoencephal

242 otential surgical candidates with refractory focal epilepsy, standard MRI does not identify the cause

243 In relatives of probands with focal epilepsy, standardized incidence ratios were 1.0 (

244 had clinical data pertaining to a history of focal epilepsy, stroke, or migraine.

245 emporal spikes is the most common idiopathic focal epilepsy syndrome, characterized by self-limited f

246 rotemporal spikes (CECTS) is the most common focal epilepsy syndrome, yet the cause of this disease r

247 PDC5 loss-of-function mutations in different focal epilepsy syndromes.

248 c zone in patients with medically refractory focal epilepsy than (18)F-FDG PET.

249 We show, in a kindling model of progressive focal epilepsy, that IEDs produce pathological oscillato

250 in 27 patients (13 female) with intractable focal epilepsy, that were tracked throughout multiple se

251 orodeoxyglucose PET imaging in patients with focal epilepsy-that inherently capture disconnection eff

252 ormal interictal EEG segments could classify focal epilepsy, the epileptogenic lobe, presence of lesi

253 hird of patients with chronic drug-resistant focal epilepsy, the EZ cannot be precisely identified us

254 ation (PAD) in patients with drug-refractory focal epilepsy through a single-blinded randomised contr

255 hort study, most people with newly diagnosed focal epilepsy took more than a year and more than 1 ASM

256 pathway are a major cause of drug-resistant focal epilepsy, typically associated with focal cortical

257 arges in patients with medically intractable focal epilepsy undergoing diagnostic workup for localiza

258 izures in patients with medically refractory focal epilepsy undergoing intracranial stereotactic elec

259 el within 81 individuals with drug-resistant focal epilepsy undergoing presurgical evaluation.

260 Eight patients with focal epilepsy undergoing presurgical surface and intrac

261 ens from 474 individuals with drug-resistant focal epilepsy using deep whole-exome sequencing (>350x)

262 -TLE, n = 26) was studied as an archetype of focal epilepsy, using fixel-based analysis of diffusion-

263 ropriately tested and approved in refractory focal epilepsies: vagus nerve stimulation (VNS), deep br

264 Focal epilepsy was associated with a higher risk of deve

265 In this study, focal epilepsy was associated with a significant risk of

266 Focal epilepsy was associated with lower hippocampal vol

267 A third subtype, only detected in focal epilepsies, was characterized by hippocampal atrop

268 In patients with focal epilepsies, we detected primarily global increases

269 t clinical examination of four subjects with focal epilepsy, we confirm a similar correlation of temp

270 ily implanted for the clinical evaluation of focal epilepsy, we investigated gaze orienting to fear d

271 iEEG) recordings from fourteen patients with focal epilepsy, we monitored key signatures of critical

272 me-wide association study in generalized and focal epilepsy, we quantified common genetic burden in p

273 itecture of focal epilepsy is to that of non-focal epilepsy; we demonstrate both significant differen

274 onsecutive participants with drug-refractory focal epilepsy were enrolled.

275 l 89 adults (54 paper and 35 app users) with focal epilepsy were included in the analysis, of which 5

276 ted idiopathic (n = 3) or refractory (n = 2) focal epilepsy were included.

277 cal evaluation, patients with drug-resistant focal epilepsy were instructed to overtly explain, in a

278 pilepsy women and women with generalized and focal epilepsy were investigated during ovulatory (n=11,

279 ta in 23 patients with medically intractable focal epilepsy were retrospectively analyzed.

280 otal of 222 adults with medically refractory focal epilepsy were selected from 256 total participants

281 ) protein, a GATOR1 subunit, causes familial focal epilepsy when mutated, and global knockout of the

282 ations in patients with febrile seizures and focal epilepsy, which encompasses the temporal lobe epil

283 ise as a novel approach to treat intractable focal epilepsy while minimizing disruption of normal cir

284 eciated in patients with treatment-resistant focal epilepsy who are treated with surgery, as some may

285 In patients with focal epilepsy who can benefit from surgery, invasive EE

286 e origin of brain mosaicism in patients with focal epilepsy who have mosaic chromosome 1q copy number

287 the 256 total adults with pharmacoresistant focal epilepsy who participated in the clinical trials o

288 We included patients with drug-resistant focal epilepsy who underwent continuous intracranial ele

289 h spatiotemporal resolution in patients with focal epilepsy who underwent intracranial seizure monito

290 We recruited 65 patients with drug-resistant focal epilepsy who underwent preoperative neuropsycholog

291 Forty patients with focal epilepsy who underwent presurgical stereo-EEG (SEE

292 To investigate the spatiotemporal scale of focal epilepsy, wide-bandwidth electrophysiological reco

293 rging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus d

294 present a treatment option in SCN8A-related focal epilepsy with onset in the first year of life.

295 stimulation target for treating substantial focal epilepsy with seizure originating from EC structur

296 y identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in

297 poral lobe epilepsy (TLE) is the most common focal epilepsy, with focal to bilateral tonic-clonic sei